PUBLICACIONES

Libro Perfil SANA 2007. Perfil de la Salud Ambiental de la Niñez en Argentina.
Extracto Capítulo 2 - Salud infantil y Ambiente: Malformaciones congénitas
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FISURA LABIOPALATINA PARA NIÑOS
Gobierno de chile
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Guía Clínica Fisura Labiopalatina
MINISTERIO DE SALUD. Guía Clínica Fisura Labiopalatina. 1st Ed. Santiago: Minsal, 2005.
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DENTAL AND CRANIOFACIAL RESEARCH
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DEMOGRAPHIC AND PRENATAL FACTORS OF PATIENTS WITH CLEFT LIP AND CLEFP PALATE.
A pilot study
SHELLY ABRAMOWICZ, D.M.D.; MARGARET E., COOPER, M.S., M.S.I.S., M.Ed.; KATHLEEN BARDI, B.S.; ROBERT J. WEYANT, M.S., D.M.D., Dr.P.H.; MARY L. MARAZITA, Ph.D.
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REHABILITACIÓN TEMPRANA DEL PACIENTE CON LABIO Y PALADAR HENDIDO BILATERAL UTILIZANDO UN DISPOSITIVO ORTOPÉDICO Y GINGIVOPERIOSTIOPLASTIA. ESTUDIO PILOTO
Ana María Cerón Zapata, Ana María López Palacio,
Alonso Cano, Sergio Toro, Elizabeth Ramírez
Universidad de Antioquia
Área Ortodoncia, Ortopedia y Crecimiento y Desarrollo
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ANÁLISIS GENETICO DE LOCI CANDIDATOS EN LABIO HENDIDO NO SINDROMITO EN FAMILIAS DE ANTIOQUIA, COLOMBIA Y OHIO, U.S.A.
Lina Moreno, Mauricio Arcos-Burgos, Mary Marazita, Katherine Krahn, Brion Maher, Margaret Cooper, Consuelo Valencia Ramírez, Andrew Lidrall. Grupo de Investigación Genética de Poblaciones, Carcinogénesis y Mutagénesis. Universidad de Antioquia
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ENFERMEDAD PERIODONTAL EN EL PACIENTE CON HENDIDURA DEL LABIO Y/O PALADAR: UNA REVISIÓN DE LA LITERATURA
Allyson Nogueira Moreira, Cláudia Silami de Magalhães, Raquel Conceição Ferreira, Nauber de Souza Vitorino
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EVALUACIÓN DE LA ASOCIACIÓN ENTRE MARCADORES DE MICROSATÉLITE EN 6P22-25 Y FISURA LABIOPALATINA NO SINDRÓMICA, UTILIZANDO EL DISEÑO DE TRÍOS CASOS-PROGENITORES EN LA POBLACIÓN CHILENA.
Rafael Blanco Ca, José Suazo Sb, José Luis Santos M1c, Hernán Carreño Zd, Mónica Paredes Ae, Lilian Jara Sf,
Felipe Eltit Ga.
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MOLDEADO NASO-ALVEOLAR EN LABIO Y PALADAR HENDIDO UNILATERAL: EFECTOS A CORTO PLAZO
David Gómez, Sean Donohue, Alvaro Figueroa, John Polley. Universidad de Rush Estados Unidos.
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An anatomical study of the three-dimensional structure of the nasal septum in patients with alveolar clefts and alveolar-palatal clefts.
	Autor/es: Nagasao T, Miyamoto J, Yasuda S, Ogata H, Imanishi Y, Zhu X, Jiang H, Ogawa K, Nakajima T.
	Cita:5: Plast Reconstr Surg. 2008 Jun;121(6):2074-83.
	Servicio: Department of Plastic and Reconstructive Surgery, School of Medicine, Keio University, Tokyo, Japan. nagasao@sc.itc.keio.ac.jp
	BACKGROUND: The present study was performed to quantitatively analyze the three-dimensional morphology of the nasal septa of patients with alveolar and alveolopalatal clefts. METHODS: Twenty-five unilateral complete cleft lip patients with alveolar clefts only (alveolar cleft group) and 35 unilateral complete cleft lip patients with alveolar and palatal clefts (alveolar and palatal cleft group) were included in the study. Although no patient in either group had undergone alveoloplasty, all patients had undergone palatoplasty. The degree of nasal septum deviation was studied for each patient at three different depths along the anteroposterior axis using three-dimensional computed tomographic data; the data were compared between the two groups to elucidate whether the difference in cleft type affects the morphologic patterns of the nasal septum. RESULTS: The nasal septa of the alveolar and palatal cleft group patients presented more uneven morphologic patterns than those of the alveolar cleft group patients. In the alveolar cleft group, the nasal septa did not present significantly different degrees of deviation at their anterior and posterior parts. In the alveolar and palatal cleft group, however, the posterior parts of the nasal septa presented greater deviation than the anterior parts. In the alveolar and palatal cleft group, furthermore, a significant correlation was observed between the severity of the cleft and the degree of the nasal septum deviation. CONCLUSIONS: The nasal septa present different three-dimensional morphologic patterns between the patients with alveolar clefts only and those with alveolopalatal clefts. This difference should be considered when performing surgical treatments for these patients.

Analysis of family incidence of cleft lip and/or palate.
	Autor/es: Kot M, Kruk-Jeromini J.
	Cita:9: Med Sci Monit. 2007 May;13(5):CR231-4.
	Servicio: Department of Plastic Surgery, Institute of Surgery, Medical University, Lódz, Poland.
	BACKGROUND: The aim of the study was to analyze family incidence of clefts and to follow the relationship between the type of cleft in a child and in its parents as well as between the sex of the child and of the affected parent. MATERIAL/METHODS: The study comprised 540 children with cleft lip and/or palate with a positive family history of cleft. One hundred twenty-seven children were selected from this group whose mother or father had a cleft. In this group, the relationship between the type of cleft and the child's and affected parent's sex were analyzed. RESULTS: Two groups of genetic clefts were confirmed, each with different risks of repetition: group I with cleft lip and/or palate and group II with isolated cleft palate. It was demonstrated that the type of cleft in a child depends not only on the type of cleft observed in the parent, but that there is also a great risk of incidence of a cleft in sons of mothers with cleft lip (CL) or cleft lip and palate (CLP) or fathers with cleft lip (CL) and in daughters of mothers or fathers with cleft palate (CP). CONCLUSIONS: 1. In 17% of children with cleft lip and/or palate, a positive family history was found. 2. The cleft type in a child depends not only on the type found in the mother or father, but also on the child's sex.

Atypical midline cleft with duplication of the metopic suture.
	Autor/es: Celebiler O, Sönmez A, Erdim M, Ozek M, Numanoglu A.
	Cita:10: J Craniomaxillofac Surg. 2007 Mar;35(2):81-3. Epub 2007 Apr 20.
	Servicio: Department of Plastic & Reconstructive Surgery, Marmara University, University Hospital.,Istanbul, Turkey.
	INTRODUCTION: In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define. PURPOSE: In this report, a case of median craniofacial dysraphia is described. PATIENT: At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT AND MRI REVEALED: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery. CONCLUSION: The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity.

Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I.
	Autor/es: Romero M, Franco B, del Pozo JS, Romance A.
	Cita:18: Cleft Palate Craniofac J. 2007 Nov;44(6):660-6.
	Servicio: Department of Pediatric Dentistry and Orthodontics, Rey Juan Carlos University, and Hospital 12 de Octubre, Madrid, Spain. martinromero@hispavista.com
	Orofaciodigital syndromes have many clinical and cephalometric anomalies, including facial irregularities, oral cavity abnormalities, and malformations of fingers and toes. In this case of twin girls, buccal exploration, cephalometric examination, and genetic analysis were performed to diagnose Orofaciodigital I or Orofaciodigital II syndrome. Clinically, the twins had several dental and skeletal irregularities. Genetic analysis revealed a DNA segment abnormality corresponding to exon 3 and presence of nucleotide change, 243C>G, leading to the missense mutation H81Q. This causative mutation associated with the OFD1 gene has not been reported previously. Both patients were diagnosed as having Orofaciodigital I syndrome.

Clinical statistical investigation of cleft lip and palate patients aged over 18 years at Department of Orthodontics, Suidobashi Hospital, Tokyo Dental College.
	Autor/es: Sakamoto T, Sueishi K, Miyazaki H, Katada H, Ebihara T, Kosaka T.
	Cita:3: Bull Tokyo Dent Coll. 2008 Feb;49(1):33-9.
	Servicio: Department of Orthodontics, Tokyo Dental College, 1-2-2 Masago, Mihama-ku, Chiba, Japan.
	Since the fee for orthodontic treatment of malocclusion caused by cleft lip and palate (CLP) became covered by national health insurance in 1982, orthodontic treatment from school age has become the norm. However, in some CLP patients, orthodontic treatment is commenced in adulthood. A number of studies have reported on orthodontic treatment in adult CLP patients. The purpose of this study was to clarify the number and age of new patients, chief complaint, referral status, cleft type, malocclusion, history of orthodontic treatment, and acceptance and planning of orthodontic treatment. The study investigated new CLP patients aged over 18 years who visited the Department of Orthodontics, Suidobashi Hospital of Tokyo Dental College, between April 1, 2001 and March 31, 2006. During the investigation period mentioned above, 235 new CLP patients visited our department. Among them, 23 were aged over 18 years, accounting for 9.8% of the 235 CLP patients. In terms of chief complaint, occlusion-related complaints and occlusal dysfunction accompanying malocclusion were noted in 14 cases (61%). Eighteen patients were referrals. Unilateral CLP was the most prevalent cleft type. In terms of malocclusion type, reversed occlusion was noted in 13 cases (57%), accounting for over half of all cases. Patients with a previous history of orthodontic treatment accounted for half of all cases. Ten patients accepted orthodontic treatment. In terms of treatment plan, surgical orthodontic treatment was planned in 10 cases.

Comparison of cleft lip only and cleft lip and palate, Hawai'i, 1986-2003.
	Autor/es: Forrester MB, Merz RD.
	Cita:20: Hawaii Med J. 2007 Nov;66(11):298, 300-2.
	Servicio: Hawai'i Birth Defects Program, Honolulu, Hawai'i, 96817-5157, USA.
	Using birth defects registry data, this investigation compared cleft lip only (CLO) and cleft lip and palate (CLP). CLP cases were more likely than CLO cases to expire after birth (3.2% versus 1.0%), be boys (68.0% versus 56.5%), Pacific Islander (26.5% versus 16.4%), have lower birth weight (20.4% versus 11.1%), and lower gestational age (22.6% versus 20.4%).

Delayed closure of the hard palate leads to speech problems and deleterious maxillary growth.
	Autor/es: Holland S, Gabbay JS, Heller JB, O'Hara C, Hurwitz D, Ford MD, Sauder AS, Bradley JP.
	Cita:5: Plast Reconstr Surg. 2007 Apr 1;119(4):1302-10.
	Servicio: Divisions of Plastic and Reconstructive Surgery of the University of Pittsburgh, Pittsburgh, PA, USA.
	BACKGROUND: Hard palate cleft closure has been associated with maxillary hypoplasia. The Schweckendiek procedure offers delayed hard palate closure to avoid early subperiosteal dissection and palatal scarring. This study sought to compare single-stage versus delayed hard palate closure for speech outcome and maxillary growth. METHODS: A retrospective outcome study was performed of unilateral cleft lip and palate patients with either delayed hard palate repair with a pinned-retained speech prosthesis (Schweckendiek repair) (group 1, delayed hard palate repair, 1978 to 1983) or single-stage cleft palate repair (group 2, single-stage repair, 1983 to 1988). Patients with complete records to maturity at the University of Pittsburgh Cleft Palate Craniofacial Center (n = 82, two equal groups of 41 patients) were studied. Comparative data were collected from multidisciplinary evaluations, perceptual speech scores, speech tests, and cephalometric analysis. RESULTS: Single-stage cleft palate repair had a lower fistulization rate (11 percent) compared with delayed hard palate repair (58 percent). It also had better speech outcomes compared with delayed hard palate repair: mean speech score, 3.1 versus 7.8; final speech score, 0.9 versus 2.9; velopharyngeal incompetency, 21 percent versus 66 percent; failed video fluoroscopy or nasoendoscopy, 18 percent versus 52 percent; and need for secondary speech procedure, 20 percent versus 63 percent. Single-stage repair showed less maxillary growth disturbance, with class III malocclusion, 31 percent versus 66 percent; cephalometric SNA, 78.2 versus 74.8; need for Le Fort I advancement, 24 percent versus 42 percent; and amount of maxillary advancement required, 6 mm versus 9 mm. CONCLUSION: The delayed cleft palate repair led to worse speech outcomes; thus, the authors' center abandoned this technique in favor of single-stage repair. In addition, their data showed that the delayed cleft palate repair led to deleterious maxillary growth.

Early intervention for speech impairment in children with cleft palate.
	Autor/es: Scherer NJ, D'Antonio LL, McGahey H.
	Cita:17: Cleft Palate Craniofac J. 2008 Jan;45(1):18-31.
	Servicio: Department of Communicative Disorders, East Tennessee State University, Johnson City, TN 37614, USA. scherern@etsu.edu
	OBJECTIVE: This study explored the effectiveness of a parent-implemented, focused stimulation program on the speech characteristics of children younger than 3 years with cleft lip and palate. The research questions included the following: (1) Can parents be trained to deliver an early intervention (EI) program for children with cleft palate? (2) Does a parent-implemented EI program result in positive changes in speech characteristics? PARTICIPANTS: Ten mother-child pairs in which the child had cleft lip and palate (CLP) and 10 mother-child pairs in which the child did not have a cleft (NCLP). The children ranged in age from 14 to 36 months of age and were matched between the CLP and the NCLP groups for vocabulary size, age, and socioeconomic status. MAIN OUTCOME MEASURES: Group differences (CLP and the NCLP) for preintervention and postintervention language and speech measures were compared. RESULTS: The results of this study showed that the mothers could be trained to deliver the intervention reliably. Furthermore, the results indicated that the intervention resulted in increased sound inventories, increased speech accuracy, and reduced use of glottal stops for the children with clefts. CONCLUSIONS: While the intervention resulted in speech gains for the children with clefts, speech measures did not exceed those made by the children without clefts. The results of the study have implications for service delivery models where the services of speech-language pathologists are limited.

EEC syndrome sans clefting: variable clinical presentations in a family.
	Autor/es: Thakkar S, Marfatia Y.
	Cita:17: Indian J Dermatol Venereol Leprol. 2007 Jan-Feb;73(1):46-8.
	Servicio: Department of Dermatology, Medical College, Vadodara, Gujarat, India. chiku1305@rediffmail.com
	Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly), epiphora, hair changes and deafness with variable involvement in each family member.

Estimating relative risks from significant family-based association studies.
	Autor/es: Knapp M.
	Cita:12: Hum Hered. 2008;66(2):111-21. Epub 2008 Mar 31.
	Servicio: Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany. knapp@uni-bonn.de
	Two approaches are described to estimate relative risks from significant family-based association studies. They can be used to obtain either point estimates or confidence regions. The approaches are evaluated by a simulation study and illustrated by application to a real data set. It is shown that both approaches largely reduce the bias in the relative risk estimates which can occur in case that the significant outcome of the study from which the relative risks are estimated is ignored. (c) 2008 S. Karger AG, Base

Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives.
	Autor/es: Sivertsen A, Wilcox AJ, Skjaerven R, Vindenes HA, Abyholm F, Harville E, Lie RT.
	Cita:16: BMJ. 2008 Feb 23;336(7641):432-4. Epub 2008 Feb 4.
	Servicio: Department of Plastic Surgery, Haukeland University Hospital, No-5021 Bergen, Norway. ase.sivertsen@isf.uib.no
	OBJECTIVE: To estimate the relative risk of recurrence of oral cleft in first degree relatives in relation to cleft morphology. DESIGN: Population based cohort study. SETTING: Data from the medical birth registry of Norway linked with clinical data on virtually all cleft patients treated in Norway over a 35 year period. PARTICIPANTS: 2.1 million children born in Norway between 1967 and 2001, 4138 of whom were treated for an oral cleft. MAIN OUTCOME MEASURE: Relative risk of recurrence of isolated clefts from parent to child and between full siblings, for anatomic subgroups of clefts. RESULTS: Among first degree relatives, the relative risk of recurrence of cleft was 32 (95% confidence interval 24.6 to 40.3) for any cleft lip and 56 (37.2 to 84.8) for cleft palate only (P difference=0.02). The risk of clefts among children of affected mothers and affected fathers was similar. Risks of recurrence were also similar for parent-offspring and sibling-sibling pairs. The "crossover" risk between any cleft lip and cleft palate only was 3.0 (1.3 to 6.7). The severity of the primary case was unrelated to the risk of recurrence. CONCLUSIONS: The stronger family recurrence of cleft palate only suggests a larger genetic component for cleft palate only than for any cleft lip. The weaker risk of crossover between the two types of cleft indicates relatively distinct causes. The similarity of mother-offspring, father-offspring, and sibling-sibling risks is consistent with genetic risk that works chiefly through fetal genes. Anatomical severity does not affect the recurrence risk in first degree relatives, which argues against a multifactorial threshold model of causation.

First-trimester maternal alcohol consumption and the risk of infant oral clefts in Norway: a population-based case-control study.
	Autor/es: DeRoo LA, Wilcox AJ, Drevon CA, Lie RT.
	Cita:2: Am J Epidemiol. 2008 Sep 15;168(6):638-46. Epub 2008 Jul 30.
	Servicio: Epidemiology Branch, National Institute of Environmental Health Sciences/National Institutes of Health, Durham, NC 27709, USA. DeRooL@niehs.nih.gov
	Although alcohol is a recognized teratogen, evidence is limited on alcohol intake and oral cleft risk. The authors examined the association between maternal alcohol consumption and oral clefts in a national, population-based case-control study of infants born in 1996-2001 in Norway. Participants were 377 infants with cleft lip with or without cleft palate, 196 with cleft palate only, and 763 controls. Mothers reported first-trimester alcohol consumption in self-administered questionnaires completed within a few months after delivery. Logistic regression was used to calculate odds ratios and 95% confidence intervals, adjusting for confounders. Compared with nondrinkers, women who reported binge-level drinking (>or=5 drinks per sitting) were more likely to have an infant with cleft lip with or without cleft palate (odds ratio = 2.2, 95% confidence interval: 1.1, 4.2) and cleft palate only (odds ratio = 2.6, 95% confidence interval: 1.2, 5.6). Odds ratios were higher among women who binged on three or more occasions: odds ratio = 3.2 for cleft lip with or without cleft palate (95% confidence interval: 1.0, 10.2) and odds ratio = 3.0 for cleft palate only (95% confidence interval: 0.7, 13.0). Maternal binge-level drinking may increase the risk of infant clefts.

Fryns syndrome. Report on 3 new cases
	Autor/es: Alessandri JL, Attali T, Brayer C, Dupuy L, Pilorget H, Ramful D, Samperiz S, Tiran-Rajaofera I, Robin S.
	Cita:11: Arch Pediatr. 2007 Jul;14(7):903-7. Epub 2007 Apr 17.
	Servicio: Service de réanimation néonatale et pédiatrique, centre hospitalier départemental Félix-Guyon, 97405 Saint-Denis cedex, La Réunion. alessandri@chd-fguyon.fr
	BACKGROUND: Fryns syndrome is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and skeletal anomalies. CASES REPORT: We report on 3 patients with Fryns syndrome in the french Indian Ocean islands (La Réunion and Mayotte islands). Pregnancies were complicated by polyhydramnios. All patients had coarse face, cloudy corneae, cleft lip / palate or high-arched palate, hypoplastic nails and brachytelephalangy. They died in the neonatal period. Two had CDH and 1 did not have a diaphragmatic involvement but a severe respiratory distress syndrome with refractory hypoxemia. Cytogenetic studies of blood lymphocytes and skin fibroblasts were normal. CONCLUSIONS: Fryns syndrome is the most common multiple congenital anomaly associated with CDH. The diagnosis is strongly suggested when CHD and brachytelephalangy are associated. Phenotypes with CDH similar to Fryns syndrome have been described with cytogenetic aberrations with G-banded chromosome analysis and submicroscopic chromosome deletions detected by high resolution karyotyping or array comparative genomic hybridization (CGH). Exclusion of chromosome aberrations (including isochromosome 12p in skin fibroblasts) is needed prior to making the diagnosis of Fryns syndrome. In sporadic cases, high resolution karyotyping or array CGH should be performed for correct diagnosis and genetic counselling.

Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft.
	Autor/es: Chevrier C, Bahuau M, Perret C, Iovannisci DM, Nelva A, Herman C, Vazquez MP, Francannet C, Robert-Gnansia E, Lammer EJ, Cordier S.
	Cita:1: Am J Med Genet A. 2008 Sep 15;146A(18):2396-406.
	Servicio: INSERM U625, Université de Rennes I, GERHM, Rennes, France. cecile.chevrier@rennes.inserm.fr
	Maternal tobacco consumption is considered as a risk factor for nonsyndromic oral clefts. However, this risk is moderate and may be modulated by genetic susceptibilities, including variants of the TGFA, TGFB3 and MSX1 developmental genes and polymorphisms of genes of the CYP (1A1, 2E1) and GST (M1, T1) families involved in metabolic pathways of tobacco smoke compounds. This French case-control study (1998-2001; 240 nonsyndromic cases, 236 controls) included a case-parent design (175 triad-families) that made it possible to distinguish the direct effect of the child's genotype and maternally mediated effects. Maternal smoking during the first trimester of pregnancy was not associated with the oral cleft risk in this population, but we observed statistically significant increased risks associated with maternal exposure to environmental tobacco smoke (ETS). No variant of any of the three developmental genes was significantly associated with oral cleft. The fetal CYP1A1*2C variant allele was associated with a statistically significant decreased risk, compared with the homozygous wild-type: relative risk = 0.48, 95% confidence interval: 0.2, 1.0. Suggestive reduced risks were also observed for the maternal CYP1A1*2C allele and the fetal CYP2E1*5 allele. The GSTM1 and GSTT1 deletions appeared to play no role. Our findings suggest some interactions, with the strongest between ETS and CYP1A1 or MSX1 and between maternal smoking and CYP2E1. We did not confirm the maternal smoking-infant GSTT1 null interaction previously reported by other investigators. Copyright 2008 Wiley-Liss, Inc.

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.
	Autor/es: Zechi-Ceide RM, Guion-Almeida ML, de Oliveira Rodini ES, Jesus Oliveira NA, Passos-Bueno MR.
	Cita:3: Clin Dysmorphol. 2007 Jul;16(3):163-6.
	Servicio: Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, USP, São Paulo, SP, Brazil. roselizc@centrinho.usp.br
	In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening for mutations at the IRF6 gene detected a pathogenic mutation (c.960G>C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C>G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed.

Increased frequency of isolated cleft palate in infants exposed to lamotrigine during pregnancy.
	Autor/es: Holmes LB, Baldwin EJ, Smith CR, Habecker E, Glassman L, Wong SL, Wyszynski DF.
	Cita:8: Neurology. 2008 May 27;70(22 Pt 2):2152-8. Epub 2008 Apr 30.
	Servicio: Genetics Unit, MassGeneral Hospital for Children, CPZS-504, 175 Cambridge Street, Boston, MA 02114, USA. holmes.lewis@mgh.harvard.edu
	BACKGROUND: Pregnancy registries for women taking anticonvulsant drugs have been developed to determine more efficiently the fetal risks of each drug. A total of 722 drug-exposed pregnancies are needed to identify a sevenfold increase in the rate of occurrence of a specific abnormality, such as spina bifida, with a frequency of 1 in 1,000. METHODS: The infants with major malformations born to the 791 women who had taken lamotrigine as monotherapy and had enrolled in the North American AED Pregnancy Registry were identified. Medical records were obtained from the affected infants' doctors. A total of 107 of the 791 infants or pregnancies were excluded. RESULTS: A total of 16 (2.3%) of 684 infants exposed to lamotrigine had major malformations that were identified at birth. Five infants (7.3/1,000) had oral clefts: isolated cleft palate (3), isolated cleft lip (1), and cleft lip and palate (1). The rate among the lamotrigine-exposed infants showed a 10.4-fold increase (95% CI: 4.3-24.9) in comparison to 206,224 unexposed infants surveyed at birth at Brigham and Women's Hospital in Boston, where the prevalence of isolated oral clefts was 0.7/1,000. A comparison was made also to 1,623 infants exposed to lamotrigine, as monotherapy, who had enrolled in five other registries. There were four infants with oral clefts: prevalence 2.5/1,000 (RR: 3.8, 95% CI: 1.4-10.0). CONCLUSIONS: The infant exposed in the first trimester of pregnancy to the anticonvulsant drug lamotrigine has an increased risk to have an isolated cleft palate or cleft lip deformity.

Long-term follow-up after maxillary distraction osteogenesis in growing children with cleft lip and palate.
	Autor/es: Huang CS, Harikrishnan P, Liao YF, Ko EW, Liou EJ, Chen PK.
	Cita:6: Cleft Palate Craniofac J. 2007 May;44(3):274-7.
	Servicio: Craniofacial Center, Faculty of Dentistry, Chang Gung Memorial Hospital, Taipei, Taiwan. sshuang@ms1.hinet.net
	OBJECTIVE: To evaluate the changes in maxillary position after maxillary distraction osteogenesis in six growing children with cleft lip and palate. DESIGN: Retrospective, longitudinal study on maxillary changes at A point, anterior nasal spine, posterior nasal spine, central incisor, and first molar. SETTING: The University Hospital Craniofacial Center. MAIN OUTCOME MEASURE: Cephalometric radiographs were used to measure the maxillary position immediately after distraction, at 6 months, and more than 1 year after distraction. RESULTS: After maxillary distraction with a rigid external distraction device, the maxilla (A point) on average moved forward 9.7 mm and downward 3.5 mm immediately after distraction, moved backward 0.9 mm and upward 2.0 mm after 6 months postoperatively, and then moved further backward 2.3 mm and downward 6.8 mm after more than 1 year from the predistraction position. CONCLUSION: In most cases, maxilla moved forward at distraction and started to move backward until 1 year after distraction, but remained forward, as compared with predistraction position. Maxilla also moved downward during distraction and upward in 6 months, but started descending in 1 year. There also was no further forward growth of the maxilla after distraction in growing children with clefts.

Maternal periconceptional smoking and alcohol consumption and risk for select congenital anomalies.
	Autor/es: Grewal J, Carmichael SL, Ma C, Lammer EJ, Shaw GM.
	Cita:6: Birth Defects Res A Clin Mol Teratol. 2008 Jul;82(7):519-26.
	Servicio: Division of Epidemiology, Statistics and Prevention Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
	BACKGROUND: This study examined the association between maternal smoking and alcohol use (including binge drinking) during the periconceptional period (i.e., 2 months before through 2 months after conception) and the risk of orofacial clefts, NTDs, and conotruncal heart defects in offspring. METHODS: Data were drawn from a population-based case-control study of fetuses and live-born infants among a cohort of California births between July 1999 and June 2003. The 1,355 cases comprised of 701 orofacial clefts, 337 NTDs, and 323 conotruncal heart defects. Information on smoking and alcohol consumption was obtained via telephone interviews with mothers of 1,355 (80% of eligibles) cases and 700 (77% of eligibles) nonmalformed, live-born controls. RESULTS: Maternal smoking of five cigarettes or less per day was associated with reduced risks of NTDs (OR 0.7; 95% CI: 0.3, 1.4), whereas the risk associated with higher cigarette consumption was lower for conotruncal heart defects (OR 0.5; 95% CI: 0.2, 1.2). Maternal intake of alcohol less than 1 day per week was associated with a 1.6- to 2.1-fold higher risk of NTDs (95% CI: 0.9, 2.6), d-transposition of the great arteries (95% CI: 1.1, 3.2), and multiple cleft lip with or without cleft palate (CLP) (95% CI: 0.8, 4.5). Risks associated with more frequent alcohol intake were 2.1 for NTDs (95% CI: 1.1, 4.0) and 2.6 for multiple CLP (95% CI: 1.1, 6.1). CONCLUSIONS: This study observed that maternal alcohol intake increased the risk for d-transposition of the great arteries, NTDs, and multiple CLP in infants. By contrast, smoking was associated with a lower risk of NTDs and conotruncal heart defects. (c) 2008 Wiley-Liss, Inc.

Maternal phenylketonuria syndrome and case management implications.
	Autor/es: Gambol PJ.
	Cita:14: J Pediatr Nurs. 2007 Apr;22(2):129-38.
	Servicio: Saddleback Memorial Medical Center, Laguna Hills, CA 92653, USA. pgambol@memorialcare.org
	Well-established dietary protocols have prevented mental retardation for infants born with phenylketonuria (PKU). Dietary protocols for managing females with PKU in their reproductive years exist but are not followed by most of them. Infants who are born to mothers with PKU who are not on dietary treatment usually have serious medical problems, such as mental retardation, heart defects, and other serious congenital anomalies (e.g., orofacial clefting and bladder exstrophy)--a condition known as maternal PKU syndrome. The focus of this article is to review the pathophysiology, associated developmental issues, and existing management protocols used to manage these two separate but highly connected disorders.

Morbidity of iliac crest donor site following open bone harvesting in cleft lip and palate patients.
	Autor/es: Rawashdeh MA.
	Cita:15: Int J Oral Maxillofac Surg. 2008 Mar;37(3):223-7. Epub 2008 Feb 12.
	Servicio: Cleft Lip & Palate Centre, Jordan University of Science & Technology and King Abdullah University Hospital, Irbid, Jordan. mamonrawashdeh@yahoo.com
	The aim of this prospective study was to assess donor site morbidity associated with open iliac crest bone harvesting to graft secondary alveolar clefts. At a university teaching hospital, 64 Jordanian patients underwent secondary alveolar bone grafting with iliac crest bone harvest. The same standardized surgical technique was used over a 6-year period by a single maxillofacial surgeon. The duration of time until postoperative ambulation and length of hospitalization were recorded. A graded visual analog scale of 1-10 was used to score the patient's postoperative pain, and perception of surgical scar and procedure. More than 76% of the patients found that postoperative pain at the hip donor site was as or less than they had expected, and the median value for the worst pain was 4. About 42% of the patients found the hip donor site to be more painful than the mouth. About 91% of the patients reported walking within the first 24h postoperatively and 89% of the patients were able to walk with normal gait within 2 weeks of surgery. The procedure was considered to result in an esthetically acceptable donor site scar, which was rated highly by patients. Harvesting bone from the iliac crest is well tolerated by patients and has low morbidity.

Non-syndromic orofacial clefts in Southern Italy: pattern analysis according to gender, history of maternal smoking, folic acid intake and familial diabetes.
	Autor/es: Carinci F, Rullo R, Farina A, Morano D, Festa VM, Mazzarella N, Del Viscovo D, Carls PF, Becchetti A, Gombos F.
	Cita:2: J Craniomaxillofac Surg. 2005 Apr;33(2):91-4.
	Servicio: Department of Head and Neck, University of Ferrara, Ferrara, Italy. crc@unife.it
	BACKGROUND: Genetic studies have demonstrated that non-syndromic clefts of the lip, alveolus and palate have an heterogeneous genetic background, and that environmental factors contribute to the onset of this malformation. Therefore studies on different and homogeneous populations can be useful in detecting potentially related environmental and genetic factors. PURPOSE: The aim of the present study was to evaluate whether gender, folic acid intake, family history of diabetes and/or smoking during pregnancy were associated with a specific type of cleft in a group of patients affected by non-syndromic clefts, collected from Southern Italy. MATERIAL AND METHODS: Data from one hundred and twenty-six patients were evaluated retrospectively. Each cleft was described as composed by separate antomical entities such as lip, alveolus, primary and secondary palate. None had an isolated alveolar cleft and this was used as internal control. Pattern analysis was used to detect differences in the frequencies of any possible combination of 7 types of clefting stratified according to the studied variables. Data were analysed by comparing observed proportions. RESULTS: Isolated cleft palate as well as right-sided clefts of lip, alveolus and palate were more frequent in females (p = 0.0014 and 0.0281, respectively), while left sided clefts were more frequent in males (p = 0.0359). A lack of consumption of folic acid was associated with an higher incidence of clefts of the left lip (p = 0.018), while familial diabetes was associated more often with isolated cleft palate (p = 0.0014). CONCLUSIONS: Gender-related results were comparable with those found in Northern Italy and other countries. Environmentally related results disclosed specific subclasses of clefting associated with lack of folic acid consumption and familial diabetes.

Oral clefts and life style factors--a case-cohort study based on prospective Danish data.
	Autor/es: Bille C, Olsen J, Vach W, Knudsen VK, Olsen SF, Rasmussen K, Murray JC, Andersen AM, Christensen K.
	Cita:19: Eur J Epidemiol. 2007;22(3):173-81. Epub 2007 Feb 13.
	Servicio: Center for the Prevention of Congenital Malformations, Institute of Public Health, University of Southern Denmark, J.B. Winsløwsvej 9B, 5000 Odense C, Denmark. cbille@health.sdu.dk
	This study examines the association between oral clefts and first trimester maternal lifestyle factors based on prospective data from the Danish National Birth Cohort. The cohort includes approximately 100,000 pregnancies. In total 192 mothers gave birth to child with an oral cleft during 1997-2003. Information on risk factors such as smoking, alcohol consumption, tea, coffee, cola, and food supplements was obtained during pregnancy for these and 828 randomly selected controls. We found that first trimester maternal smoking was associated with an increased risk of oral clefts (odds ratio (OR): 1.50; 95% confidence interval (CIs): 1.05, 2.14). Although not statistically significant, we also saw associations with first trimester consumption of alcohol (OR: 1.11; CIs: 0.79, 1.55), tea (OR: 1.31; CIs: 0.93, 1.86), and drinking more than 1 l of cola per week (OR: 1.40; CIs: 0.92, 2.12). Furthermore supplementation with > or =400 mcg folic acid daily during the entire first trimester (OR: 0.75; CIs: 0.46, 1.22) suggested an inverse associated with oral clefts, similar to our results on coffee drinking. No effects were found for smaller doses of folic acid, vitamin A, B6 or B12 in this study. The present study found an association between oral clefts and smoking and, although not conclusive, supports an association of oral cleft with alcohol.

Orofacial findings and dental treatment in an 8-year-old patient with trisomy 18: a case report.
	Autor/es: de Queiroz AM, Raffaini MS, de Camargo LM, de Pina Neto JM, Melo DG, Silva RA.
	Cita:9: J Dent Child (Chic). 2007 Jan-Apr;74(1):67-72.
	Servicio: Department of Pediatric Clinics, Faculdade de Odontologia de Ribeirão Preto, Ribeirão Preto, São Paulo, Brazil. amqueiroz@forp.usp.br
	Trisomy 18 is characterized by: psychomotor disabilities, dysmorphic features, organ malformations, including mental retardation, growth deficiency, poor motor ability, micrognathia, microcephaly, congenital heart defects, and kidney abnormalities. The oral findings typically observed in these patients are: cleft lip and a high, narrow, and sometimes cleft palate. The degree of severity of the malformations is directly related to life expectancy. Only 5% to 10% of affected infants survive beyond the first year of life. Although trisomy 18 has been widely investigated from a medical standpoint, there is a lack of reports addressing the oral manifestations and dental treatment approach in affected children, presumably due to their shortened life expectancy. The purpose of this article was to present the case of an 8-year-old child diagnosed with trisomy 18 and address the clinical features observed--emphasizing the disease-specific oral, craniofacial, and dental findings. Dental care management of the patient is described.

Otoscopic and tympanometric findings in infants with cleft lip and palate] [Article in Portuguese
	Autor/es: Feniman MR, Souza AG, Jorge JC, Lauris JR.
	Cita:4: Rev Bras Otorrinolaringol (Engl Ed). 2008 Mar-Apr;74(2):248-52.
	Servicio: Departamento de Fonoaudiologia, Faculdade de Odontologia de Bauru, Universidade de São Paulo, Bauru, SP.
	Tympanometry plays a fundamental role in the identification of middle ear alterations, which are frequent in the population with cleft lip and palate. AIM: do a retrospective analysis of the otoscopy and tympanometric exams of infants with cleft lip and palate who were not operated. Retrospective study. MATERIALS AND METHODS: we analyzed 273 charts from infants with cleft lip and palate whom, from March 1996 to April of 2002 underwent pneumatic otoscopy and tympanometry with a 226 Hz probe. RESULTS: We did not find statistical significance in the otoscopic and tympanometric findings considering ears and genders. We observed 84% of alterations in otoscopy (opacification/83.4%, visible fluid in the middle ear /1.5%, the ear drum does not move during inflation /1.8 and retraction/0.7) and 65% in tympanometric curves (B/38%), A/36.5%, As/21%, C/4% and Ad/0.5%). CONCLUSION: female and male infants with cleft lip and palate did not differ as far as otoscopic and tympanometry findings are concerned. All types of tympanometric curves were present, and types A and B were the most frequent ones. Ear drum opacification was the most frequent otoscopic finding. Pneumatic otoscopy identified a larger number of alterations when compared to conventional tympanometry.

Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum.
	Autor/es: Savasta S, Chiapedi S, Perrini S, Tognato E, Corsano L, Chiara A.
	Cita:14: Childs Nerv Syst. 2008 Jun;24(6):773-6. Epub 2008 Mar 28.
	Servicio: Department of Pediatrics, Fondazione Policlinico S.Matteo IRCCS, Univesity of Pavia, P.le Golgi, 2, 27100 Pavia, Italy. s.savasta@smatteo.pv.it
	INTRODUCTION: Pai syndrome is a rare genetic disorder mainly characterized by the association of complete median cleft of palate and upper lip, midline facial cutaneous, and mid-anterior alveolar process polyps, duplicated maxillary median frenulum, bifid nose, and midline lipoma(s) of the central nervous system, in particular, the corpus callosum. The incidence of this syndrome is much higher in males than in females. The etiology remains unknown: The syndrome may be associated with autosomal-dominant inheritance, but X-linked recessive inheritance could not be excluded. DISCUSSION: A de novo apparently balanced reciprocal traslocation, 46,X,t(X;16) has been described in a 13-year-old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. We describe a new case that presents the main clinical features associated with bifid nose, lipoma, and partial agenesis of corpus callosum.

Parent reports of the psychosocial functioning of children with cleft lip and/or palate.
	Autor/es: Hunt O, Burden D, Hepper P, Stevenson M, Johnston C.
	Cita:8: Cleft Palate Craniofac J. 2007 May;44(3):304-11.
	Servicio: School of Dentistry, Queen's University Belfast, Northern Ireland. o.hunt@qub.ac.uk
	OBJECTIVES: (1) to determine the opinion of parents regarding the psychosocial functioning of their child with cleft lip and/or palate (CLP); (2) to identify predictors of psychosocial functioning; and (3) to determine the level of agreement between children with CLP and their parents. Participants: One hundred twenty-nine parents of children with CLP and 96 parents of children without CLP participated in this cross-sectional study. OUTCOME MEASURES: Parental opinion of the child's self-esteem, anxiety, happiness, and problems caused by facial appearance were assessed using visual analogue scales. Parents completed the Child Behavior Checklist and were interviewed. RESULTS: Children with CLP were more anxious (p < 0.05), less happy with their appearance (p < 0.001), and in general (p < 0.05) had lower self-esteem (p < 0.05) and greater behavioral problems (p < 0.001) compared with non-CLP children. Parents reported that their child with CLP was teased more often (p < 0.001) and was less satisfied with his/her speech (p < 0.01) compared with reports of parents in the control group. A number of factors affected parents' ratings of their child's psychosocial functioning (presence of CLP, appearance happiness, previous history of CLP, and visibility of scar). Children who had been teased were more anxious (p < or = 0.01), less happy with their appearance (p < 0.001) and had greater behavioral problems (p < 0.001). CONCLUSIONS: Parents of children with CLP reported various psychosocial problems among their children. Parents considered children who had been teased to have greater psychosocial problems.

Polymorphic variants of genes encoding main antioxidant enzymes and the risk of CL/P-affected pregnancies.
	Autor/es: Mostowska A, Hozyasz KK, Lianeri M, Piwowar W, Jagodzinski PP.
	Cita:18: Clin Biochem. 2007 Mar;40(5-6):416-9. Epub 2007 Jan 9.
	Servicio: Department of Biochemistry and Molecular Biology, University of Medical Sciences in Poznan, Swiecickiego St 6, 60-781 Poznan, Poland. amostowska@wp.pl
	OBJECTIVE: The study focused on the correlation between maternal polymorphisms of genes encoding antioxidant enzymes and the risk of having a child with CL/P in the Polish population. METHOD: PCR-RFLP analysis was used to analyze polymorphisms of MnSOD2 (c.47T>C), CAT (c.-330C>T) and GPX1 (c.599C>T) in mothers of children with CL/P and control mothers. RESULTS AND CONCLUSION: Polymorphic variants of genes for main antioxidant enzymes were determined not to be a maternal risk factor for having a child with CL/P in the investigated group of women.

Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil.
	Autor/es: Brandalize AP, Bandinelli E, Borba JB, Félix TM, Roisenberg I, Schüler-Faccini L.
	Cita:2: Braz J Med Biol Res. 2007 Jun;40(6):787-91.
	Servicio: Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil.
	Non-syndromic cleft lip and palate (CL/P) occurs due to interaction between genetic and environmental factors. Abnormalities in homocysteine metabolism may play a role in its etiology due to polymorphisms in genes involved in this pathway. Because of the involvement of MTHFR, MTR and MTRR genes with folate metabolism and the evidence that maternal use of folic acid in early pregnancy reduces the risk for CL/P, we evaluated the influence of their polymorphisms on the etiology of CL/P through a case-control study. The analyses involved 114 non-syndromic phenotypically white children with clefts (case) and 110 mothers, and 100 non-affected (control) children and their mothers. The polymorphisms 677C>T of MTHFR, 2756A>G of MTR, and 66A>G of MTRR genes were analyzed by PCR-RFLP. Allelic frequencies did not differ from other studies conducted on white populations for MTHFR 677T allele (0.35) and for MTR 2756G allele (0.17), but MTRR 66G allele frequency (0.35) was lower than observed elsewhere. The genotypic distribution of the 677C>T polymorphisms under study did not show significant differences between CL/P patients, their mothers and controls. These results suggest that the alterations of folate metabolism related to these polymorphisms are not involved in clefting in the population under study.

Prenatal evaluation of facial clefts by three-dimensional extended imaging.
	Autor/es: Wang LM, Leung KY, Tang M.
	Cita:4: Prenat Diagn. 2007 Aug;27(8):722-9.
	Servicio: Guangdong Women and Children Hospital, Ultrasound, China.
	OBJECTIVES: To determine the prenatal diagnostic accuracy of two-dimensional ultrasound (2DUS) alone versus 2DUS in conjunction with three-dimensional ultrasonography (3DUS) including orthogonal display (OGD) and three-dimensional extended Imaging for cleft lip and primary palate. MATERIALS AND METHOD: Fetuses being suspected of having a facial cleft by previous ultrasound examination or family history were examined sequentially with 2DUS and then 3DUS. RESULTS: Of a total of 30 infants, 22 had cleft lip and nine also had cleft palate at birth. The use of 2DUS with or without 3DUS correctly identified all cases of cleft lips prenatally. However, the use of 2DUS in conjunction with 3DUS correctly identified more cleft primary palate than 2DUS alone (88.9% vs 22.2%, P < 0.01). Cleft primary palate was well demonstrated in both the multi-slice view (MSV) and OGD modes. In one case, a cleft palate was shown in the MSV mode but not in the Oblique view (OBV) mode. All the unaffected fetuses were reported as no cleft palate with the use of MSV mode. CONCLUSIONS: Combined approach of 2DUS and 3DUS with both OGD and MSV modes significantly improved the prenatal detection rate for a cleft palate compared with 2DUS alone (88.9% vs 22.2%) without decreasing the specificity. Copyright (c) 2007 John Wiley & Sons, Ltd.

Prevalence and pathogenesis of congenital anomalies in cerebral palsy.
	Autor/es: Pharoah PO.
	Cita:12: Arch Dis Child Fetal Neonatal Ed. 2007 Nov;92(6):F489-93. Epub 2007 Apr 11.
	Servicio: FSID Unit of Perinatal and Paediatric Epidemiology, Department of Public Health, University of Liverpool, Liverpool L69 3GB, UK. p.o.d.pharoah@liv.ac.uk
	BACKGROUND: It has been hypothesised that cerebral palsy (CP) and other congenital anomalies are attributable to feto-fetal transfusion problems in a monochorionic multiple gestation. Thus more than one organ could be compromised leading to the coexistence of two or more anomalies in a fetus. Such anomalies in a singleton birth may be attributable to early demise of the co-conceptus as a vanishing twin. AIM: To determine whether the coexistence of congenital anomalies and CP is greater than a chance finding by comparing the prevalence of congenital anomalies in children with CP with that in the general population of children. METHODS: A population-based register of children with CP born in 1966-1991 in the counties of Merseyside and Cheshire, UK, comprised the index population. Coexisting congenital anomalies were recorded. For comparison the population prevalence of congenital anomalies was obtained from eight congenital malformation registers in the UK. RESULTS: Children with CP were found to have highly significant increases in risk for microcephaly, isolated hydrocephaly, congenital anomalies of the eye, congenital cardiac anomalies, cleft lip and/or palate and congenital dislocation of the hips and talipes (p<0.001) and atresias of the oesophagus (p<0.001) and intestines (p<0.01). The relative risks ranged from 3.1 (95% CI 1.9 to 4.8; p<0.001) for congenital malformations of the cardiac septa to 116.09 (95% CI 84.0 to 162.3; p<0.001) for microcephaly. CONCLUSIONS: Congenital anomalies in children with CP are found much more frequently than expected by chance. A common pathogenic mechanism may account for the coexistence of disparate congenital anomalies. A hypothesis is proposed for such a common pathogenic mechanism.

Prevention of orofacial clefts: does pregnancy planning have a role?
	Autor/es: Mossey PA, Davies JA, Little J.
	Cita:7: Cleft Palate Craniofac J. 2007 May;44(3):244-50.
	Servicio: University of Dundee, Dental School, Scotland, UK. p.a.mossey@dundee.ac.uk
	OBJECTIVE: To investigate the association between pregnancy planning and orofacial clefts in the United Kingdom. DESIGN: Case-control study. SETTING: Scotland and the Manchester and Merseyside regions of England. PARTICIPANTS: One hundred and ninety-one children born with nonsyndromic orofacial cleft, 1997 to 2000, and 247 controls. MAIN OUTCOME MEASURE: Cleft lip with and without cleft palate, and cleft palate. RESULTS: There was an inverse association between planning for pregnancy and orofacial cleft in the offspring (odds ratio [OR] = 0.51, 95% confidence interval [CI] = 0.33-0.79). An unplanned pregnancy together with smoking in the first trimester of pregnancy resulted in almost treble the risk of a child with an orofacial cleft when compared with those who planned their pregnancy and did not smoke (OR = 2.92, CI = 1.50-5.65). CONCLUSIONS: Planned pregnancies were associated with a lower risk of orofacial clefts. Isolation of the elements of pregnancy planning implicated in these results is difficult. Current preconception advice needs to reach a wider audience; however, for maximum impact, efforts are needed to reduce the numbers of unplanned pregnancies.

Risk of oral clefts in relation to prepregnancy weight change and interpregnancy interval.
	Autor/es: Villamor E, Sparén P, Cnattingius S.
	Cita:13: Am J Epidemiol. 2008 Jun 1;167(11):1305-11. Epub 2008 Mar 28.
	Servicio: Department of Nutrition, Harvard School of Public Health, Boston, MA 02115, USA. evillamo@hsph.harvard.edu
	Epidemiologic evidence regarding the influence of maternal obesity on the risk of oral clefts is inconsistent. It is unknown whether increases in maternal weight before pregnancy are related to the risk of these malformations. The authors conducted a population-based cohort study in Sweden among 220,328 women who had their first two pregnancies between 1992 and 2004. The risk of oral clefts during the second pregnancy was estimated in relation to maternal change in body mass index (BMI; weight (kg)/height (m)(2)) from the beginning of the first pregnancy to the beginning of the second pregnancy. Among women whose second-pregnancy BMI was > or =3 units higher than their first-pregnancy BMI, the adjusted risk of isolated cleft palate was 2.3 times higher (95% confidence interval: 1.4, 4.0) as compared with women whose BMI did not change substantially. BMI change was not related to the risk of cleft lip. Unexpectedly, the birth p