Syndactyly, ectodermal dysplasia, and cleft lip/palate.
نویسندگان
چکیده
منابع مشابه
Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.
Two Turkish sibs, products of a second cousin marriage, with tetramelic syndactyly, ectodermal dysplasia, cleft lip and palate, renal anomalies, and mental retardation are reported. Similarities between these two brothers and previously reported cases and their mode of transmission are discussed.
متن کاملEctrodactary, ectodermal dysplasia, and cleft lip-palate syndrome.
The EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate) is a rare disorder inherited as an autosomal dominant trait or can occur sporadically. We describe a case of this syndrome with chronic ocular surface disorder secondary to abnormalities of ocular adnexia.
متن کاملMutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Ectodermal dysplasias form a large disease family with more than 200 members. The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS). We used a homozygosity mapping approach to map the EDSS locus to 1q23 in a consanguineous Algerian family. By candidate gene analysis, we identified a homozygous mut...
متن کاملEctodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome.
A 13-year-old mentally retarded girl with severe cutaneous and osseous syndactyly of the hands and feet, cleft lip/palate, and ectodermal dysplasia is presented. We conclude that the pattern of malformations described represents a new multiple malformation syndrome. A comparison with Zlotogora-Ogür syndrome is presented.
متن کاملEctodermal dysplasia and immunodeficiency.
EDITOR,-Immunodeficiency has been previously described in patients with ectodermal dysplasial; surprisingly it was not mentioned at all in the recent review article on ectodermal dysplasia in this journal.2 Immunodeficiency is not a constant feature in all patients with ectodermal dysplasia, it is often transient and variable and no consistent T or B cell abnormality has been found.' The exact ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1994
ISSN: 1468-6244
DOI: 10.1136/jmg.31.12.957