Premium
Clinical variability in acro‐cardio‐facial‐syndrome
Author(s) -
Kariminejad Ariana,
Bozorgmehr Bita,
Sedighi Gilani Mohammad Ali,
Almadani Navid,
Kariminejad Mohamad Hasan
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32052
Subject(s) - imperforate anus , ectrodactyly , medicine , sex organ , anatomy , pediatrics , dermatology , biology , ectodermal dysplasia , genetics
We report on a 25‐year‐old man with ectrodactyly and genital anomalies whose parents are first cousins. Their second child died 4 days after birth with severe limb defects and imperforate anus. Our patient may represent clinical variability of the acro‐cardio‐facial syndrome. © 2008 Wiley‐Liss, Inc.