Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression.
نویسندگان
چکیده
An infant is reported with a complete form of the ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, inherited from his mother, who has a partial expression of the condition, without clefting. This observation stresses the phenotypic variability of the EEC syndrome, which in most cases is inherited as an autosomal dominant with reduced penetrance.
منابع مشابه
Hypothalamo−Pituitary Insufficiency Associated with Ectrodactyly−Ectodermal Dysplasia−Clefting Syndrome
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss. This syndrome is a rare disease transmitted by autosomal dominant inheritance with variable penetrance. Clinical expression is variable. In EEC syndrome ...
متن کاملسندرم Ectrodactyly– ectodermal dysplasia clefting: گزارش مورد به همراه علائم دهانی
Objectives: Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is a rare syndrome with features of ectrodactyly, ectodermal dysplasia and cleft lip/palate. This study presents an Iranian case with classic features and oral complications. Case: We report a 20-year old female with all manifestations of this syndrome. The simultaneous presence of these three malformations is extremely r...
متن کاملDilemmas in counselling: the EEC syndrome.
A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3/4 syndactyly. The dilemmas faced by the genetic counsellor are discussed...
متن کاملAnalysis of Large Phenotypic Variability of EEC and SHFM4 Syndromes Caused by K193E Mutation of the TP63 Gene
EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) is an autosomal dominant developmental disorder resulting mainly from pathogenic mutations of the DNA-binding domain (DBD) of the TP63 gene. In this study, we showed that K193E mutation in nine affected individuals of a four-generation kindred with a large degree of phenotypic variability causes four different syndromes or TP63-rel...
متن کاملChoanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: a further case.
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.
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عنوان ژورنال:
- Journal of medical genetics
دوره 13 4 شماره
صفحات -
تاریخ انتشار 1976