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Daughter and her mildly affected father with Keipert syndrome
Author(s) -
Dumic Miroslav,
Kokic Durda Dovzak,
Matic Toni,
Potocki Kristina
Publication year - 2006
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.31489
Subject(s) - phalanx , daughter , medicine , thumb , hypoplasia , girl , anatomy , hand deformity , audiology , biology , genetics , evolutionary biology
A 10‐year‐old girl with characteristic features of Keipert syndrome (broad terminal phalanges, especially of the thumb and hallux, sensorineural deafness, unusual facial features, large head circumference, maxillary hypoplasia, hoarse voice) and her mildly affected father (broad terminal phalanges, especially of the thumb and hallux, large head circumference, maxillary hypoplasia, and hoarse voice) are presented. The girl is the first reported female with this rare syndrome to date, and the fact that she probably inherited the disease from her father suggests an autosomal dominant pattern of inheritance. © 2006 Wiley‐Liss, Inc.