Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome - Variable Presentation among First-degree Relatives of a Family

被引：0
作者：
Ranjan, Shivani [1 ]
Akhoon, Neha [1 ]
机构：
[1] Govt Med Coll, Dept Dermatol, Jammu, Jammu & Kashmir, India
来源：
INDIAN JOURNAL OF PAEDIATRIC DERMATOLOGY | 2025年 / 26卷 / 01期
关键词：
Cleft lip; cleft palate; ectodermal dysplasia; ectrodactyly; EEC-SYNDROME; PALATE; LIP;
D O I：
10.4103/ijpd.ijpd_112_24
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands along with ectrodactyly and clefting of lip/palate. This case series presents autosomal dominant transmission of EEC syndrome in a family and highlights the intrafamilial variations indicating variable penetrance.
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收藏
页码：29 / 31
页数：3
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