Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome.
نویسندگان
چکیده
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.
منابع مشابه
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome in monozygotic twins: two cases report and reviews.
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (or Hay-Wells syndrome) is a rare congenital malformation. Our first cases were a pair of female monozygotic twins with AEC syndrome at Srinagarind Hospital. In this study, we describe monozygotic female twins concordant for ankyloblephaon, ectodermal dysplasia and helical rim deformities, but discordant for cleft, syndactyly of...
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متن کاملEctrodactyly and prenatal diagnosis.
Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers. It may involve one or more digits or the full hand and even par...
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ورودعنوان ژورنال:
- American journal of medical genetics
دوره 70 3 شماره
صفحات -
تاریخ انتشار 1997