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Cleft Lip

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2561. An epidemiological and genetic study of facial clefting in France. II Segregation analysis. Full Text available with Trip Pro

An epidemiological and genetic study of facial clefting in France. II Segregation analysis. Familial transmission of cleft lip with or without cleft palate (CL(P] and isolated cleft palate (CP) was studied in two French samples of 458 CL(P) and 156 CP nuclear families, using the recently implemented unified model. In neither case could discrimination be achieved between polygenic inheritance and monogenic inheritance with a high proportion of sporadic cases. In this type of disorder

1984 Journal of Medical Genetics

2562. Maternal cigarette smoking and oral clefts: a population-based study. Full Text available with Trip Pro

Maternal cigarette smoking and oral clefts: a population-based study. Analyses of 1984 data from the Maryland Birth Defects Reporting and Information System indicate that mothers of infants with oral clefts (cleft lip with or without cleft palate; and cleft palate) smoked more during pregnancy than mothers of infants with other defects (odds ratio OR of 2.56 and 2.39, respectively). There was a dose-response relation between the daily amount smoked and the risk of clefting. Adjustment (...) for available confounding variables did not account for the association between smoking and oral clefts.

1987 American Journal of Public Health

2563. Epidemiology of facial clefts. Full Text available with Trip Pro

Epidemiology of facial clefts. Data from the Glasgow Register of Congenital Malformations were used to investigate the epidemiology of congenital facial clefts over the period 1974-85. Facial clefts were registered in 247 infants representing a prevalence of 1.56 per 1000 total births. Cleft palate was more common than cleft lip, with cleft lip and palate occupying an intermediate position. More than half of the infants with facial clefts had associated defects. Males predominated for cleft lip (...) ; females for cleft palate. Cleft lip (alone) was more common in babies born to women aged 35 years and over. Sudden declines in registered prevalence were observed in 1978 and 1985. Clefts were more common in socioeconomically deprived areas of the city. In comparison with data from elsewhere, Glasgow seems to have a low rate of cleft lip, a high rate of cleft palate, and a high rate of associated defects. Many of the findings of cleft palate in Glasgow could be explained by the interaction

1987 Archives of Disease in Childhood

2564. Unknown syndrome: microcephaly, facial clefting, and preaxial polydactyly. Full Text available with Trip Pro

Unknown syndrome: microcephaly, facial clefting, and preaxial polydactyly. We present a four year old boy with short stature, disproportionate microcephaly, developmental delay, convulsions, bilateral cleft lip and palate, and bifid right thumb.

1988 Journal of Medical Genetics

2565. A family study of isolated cleft palate. Full Text available with Trip Pro

, with some families showing modified dominant inheritance. This is in contrast to cleft lip (+/- cleft palate) where the data are consistent with a multifactorial threshold model. (...) A family study of isolated cleft palate. A family study was based on 245 boy and 329 girl patients treated surgically for non-syndromic cleft palate between 1920 and 1929; 86 and 81 respectively were traced and had had children. These 167 were the probands for the family study and were interviewed in their homes. None was born to a consanguineous marriage. Altogether they had had 384 children of whom 11 had cleft palate (2.9 +/- 0.9%). They had 398 sibs of whom five had cleft palate, 117

1982 Journal of Medical Genetics

2566. The hypertelorism microtia clefting syndrome Full Text available with Trip Pro

The hypertelorism microtia clefting syndrome 7143395 1983 01 19 2018 11 13 0022-2593 19 5 1982 Oct Journal of medical genetics J. Med. Genet. The hypertelorism microtia clefting syndrome. 387-8 Baraitser M M eng Case Reports Journal Article England J Med Genet 2985087R 0022-2593 IM Cleft Lip genetics Cleft Palate genetics Craniofacial Dysostosis genetics Ear, External abnormalities Humans Hypertelorism genetics Infant, Newborn Male Syndrome 1982 10 1 1982 10 1 0 1 1982 10 1 0 0 ppublish 7143395

1982 Journal of Medical Genetics

2567. An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives. Full Text available with Trip Pro

An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives. The frequencies of cleft lip with or without cleft palate (CL(P)) and isolated cleft palate (CP) have been estimated in France to be 0.082% and 0.035%, respectively, after exclusion of malformation syndromes. A genetic and epidemiological study has been carried out on 468 patients with CL(P) and 163 with CP. The results are given in detail and some specific points are discussed

1982 Journal of Medical Genetics

2568. Clustering of malformations in the families of South American oral cleft neonates. Full Text available with Trip Pro

Clustering of malformations in the families of South American oral cleft neonates. The relatives of 741 newborn children with non-syndromic cleft lip with or without cleft palate (CL +/- P), of 115 with isolated cleft palate (CP), and of equal numbers of appropriate controls were screened for the presence of the same or different malformations. The main findings were as follows. (1) The frequency of familial cases of CL +/- P (17.3%) was much higher than the prevalence of this malformation

1991 Journal of Medical Genetics

2569. Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Full Text available with Trip Pro

Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.

1989 Journal of Medical Genetics

2570. Another case of microcephaly, facial clefting, and preaxial polydactyly. Full Text available with Trip Pro

Another case of microcephaly, facial clefting, and preaxial polydactyly. We describe a nine month old boy with failure to thrive, developmental delay, bilateral cleft lip and palate, and left preaxial polydactyly. The features are similar to those in a child described by Howard and Young and may be the second case of a previously unknown syndrome.

1990 Journal of Medical Genetics

2571. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq Full Text available with Trip Pro

Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogenesis. As a first step in identifying genes involved in human development, we used

1990 American Journal of Human Genetics

2572. Prevalence of other birth defects among relatives of oral cleft probands. Full Text available with Trip Pro

Prevalence of other birth defects among relatives of oral cleft probands. 1640439 1992 08 28 2018 11 13 0022-2593 29 7 1992 Jul Journal of medical genetics J. Med. Genet. Prevalence of other birth defects among relatives of oral cleft probands. 516 Cereijo A I AI Martinez-Frias M L ML eng Comment Letter Research Support, Non-U.S. Gov't England J Med Genet 2985087R 0022-2593 IM J Med Genet. 1991 May;28(5):325-9 1842671 Case-Control Studies Cleft Lip epidemiology Cleft Palate epidemiology

1992 Journal of Medical Genetics

2573. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Full Text available with Trip Pro

for the allelic variants of TGFa. We found that risks associated with maternal smoking were most elevated for isolated cleft lip with or without cleft palate, (odds ratio 2.1 [95% confidence interval 1.3-3.6]) and for isolated cleft palate (odds ratio 2.2 [1.1-4.5]) when mothers smoked > or =20 cigarettes/d. Analyses controlling for the potential influence of other variables did not reveal substantially different results. Clefting risks were even greater for infants with the TGFa allele previously associated (...) Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Results of studies to determine whether women who smoke during early pregnancy are at increased risk of delivering infants with orofacial clefts have been mixed, and recently a gene-environment interaction between maternal smoking, transforming growth factor-alpha (TGFa), and clefting has been reported. Using a large population-based case-control study, we investigated whether parental

1996 American Journal of Human Genetics

2574. Tobacco and alcohol use during pregnancy and risk of oral clefts. Occupational Exposure and Congenital Malformation Working Group. Full Text available with Trip Pro

Tobacco and alcohol use during pregnancy and risk of oral clefts. Occupational Exposure and Congenital Malformation Working Group. This study examined the relationship between maternal tobacco and alcohol consumption during the first trimester of pregnancy and oral clefts.Data were derived from a European multicenter case-control study including 161 infants with oral clefts and 1134 control infants.Multivariate analyses showed an increased risk of cleft lip with or without cleft palate (...) associated with smoking (odds ratio [OR] = 1.79, 95% confidence interval [CI] = 1.07, 3.04) and an increased risk of cleft palate associated with alcohol consumption (OR = 2.28, 95% CI = 1.02, 5.09). The former risk increased with the number of cigarettes smoked.This study provides further evidence of the possible role of prevalent environmental exposures such as tobacco and alcohol in the etiology of oral clefts.

2000 American Journal of Public Health

2575. Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1. Full Text available with Trip Pro

Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1. van der Woude syndrome (VWS), which has been mapped to 1q32-41, is characterized by pits and/or sinuses of the lower lip, cleft lip/palate (CL/P), cleft palate (CP), bifid uvula, and hypodontia (H). The expression of VWS, which has incomplete penetrance, is highly variable. Both the occurrence of CL/P and CP within the same genealogy (...) and a recurrence risk <40% for CP among descendants with VWS have suggested that the development of clefts in this syndrome is influenced by modifying genes at other loci. To test this hypothesis, we have conducted linkage analysis in a large Brazilian kindred with VWS, considering as affected the individuals with CP, regardless of whether it is associated with other clinical signs of VWS. Our results suggest that a gene at 17p11.2-11.1, together with the VWS gene at 1p32-41, enhances the probability of CP

1999 American Journal of Human Genetics

2576. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Full Text available with Trip Pro

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Nonsyndromic cleft lip with or without cleft palate (CL/P) and nonsyndromic cleft palate only (CPO) are common congenital anomalies with significant medical, psychological, social, and economic ramifications. Both CL/P and CPO are examples of complex genetic traits. There exists sufficient evidence to hypothesize that disease loci for CL/P and CPO can be identified by a candidate-gene linkage-disequilibrium (LD) strategy (...) . Candidate genes for clefting, including TGFA, BCL3, DLX2, MSX1, and TGFB3, were screened for LD with either CL/P or CPO in a predominantly Caucasian population, with both case-control- and nuclear-family-based approaches. Previously reported LD for TGFA with both CL/P and CPO could not be confirmed, except in CL/P patients with a positive family history. Also, in contrast to previous studies, no LD was found between BCL3 and either CL/P or CPO. Significant LD was found between CL/P and both MSX1

1998 American Journal of Human Genetics

2577. Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting. Full Text available with Trip Pro

Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting. Chromosomal translocations affecting the 6p24 region have been associated with orofacial clefting. Here we present a female patient with cleft palate, severe growth retardation, developmental delay, frontal bossing, hypertelorism, antimongoloid slant, bilateral ptosis, flat nasal bridge, hypoplastic nasal alae, protruding upper lip, microretrognathia, bilateral, low set, and posteriorly rotated (...) ears, bilateral microtia, narrow ear canals, short neck, and a karyotype of 46,XX,t(6;9)(p24;p23). The translocation chromosomes were analysed in detail by FISH and the 6p24 breakpoint was mapped within 50-500 kb of other breakpoints associated with orofacial clefting, in agreement with the assignment of such a locus in 6p24. The chromosome 9 translocation breakpoint was identified to be between D9S156 and D9S157 in 9p23-p22, a region implicated in the 9p deletion syndrome.

1998 Journal of Medical Genetics

2578. Triophthalmia and facial clefting: a case report. Full Text available with Trip Pro

Triophthalmia and facial clefting: a case report. We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.

1998 Journal of Medical Genetics

2579. Prediction of liability to orofacial clefting using genetic and craniofacial data from parents. Full Text available with Trip Pro

Prediction of liability to orofacial clefting using genetic and craniofacial data from parents. Cleft lip with or without cleft palate (CL(P)) and isolated cleft palate (CP) are separate clinical entities and for both polygenic multifactorial aetiology has been proposed. Parents of children with orofacial clefting have been shown to have distinctive differences in their facial shape when compared to matched controls.To test the hypothesis that genetic and morphometric factors predispose (...) to orofacial clefting and that these markers differ for CL(P) and CP. Methods-Polymorphisms at the transforming growth factor alpha (TGFalpha) locus in 83 parents of children with nonsyndromic orofacial clefts were analysed, and their craniofacial morphology was assessed using lateral cephalometry.Parents of children with CL(P) and CP showed an increased frequency of the TGFalpha/TaqI C2 allele (RR=4.10, p=0.009) relative to the comparison group. Also the TGFalpha/BamHI A1 allele was more prevalent

1998 Journal of Medical Genetics

2580. Assisted feeding is more reliable for infants with clefts--a randomized trial. (Abstract)

within the National Health Service in the north of England.The patients were 101 consecutively born children with cleft lip and/or palate who were otherwise healthy. All patients completed the trial. Two were excluded from the analysis when unrelated developmental problems became apparent.Anthropometric measures-nude weight, crown-heel length (CHL), and occipito-frontal circumference (OFC)-were recorded.There were statistically significant differences between the two groups in weight at 12 months (p (...) Assisted feeding is more reliable for infants with clefts--a randomized trial. To compare the effectiveness of squeezable and rigid feeding bottles for infants with clefts.Patients were randomly assigned at birth to feeding with a squeezable bottle (assisted feeding) or to feeding with a rigid bottle and were followed for 1 year. The data were analyzed on the basis of intention to treat.The trial was conducted within the existing arrangements for hospital and home care for children with clefts

1999 The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association Controlled trial quality: uncertain

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