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Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome
Author(s) -
GarcíaOrtiz Jose E.,
BandaEspinoza Felipe,
Zenteno Juan C.,
GalvánUriarte Luz M.,
RuizFlores Pablo,
GarcíaCruz Diana
Publication year - 2005
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.30696
Subject(s) - microphthalmia , short stature , ectrodactyly , hypospadias , anatomy , biology , genetics , endocrinology , gene , ectodermal dysplasia
Split hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation that may be isolated or associated with other malformations. More than 50 recognizable entities with SHFM have been described and at least 5 mapped genetic loci have been implicated. Two brothers with intrauterine growth retardation, short stature, distinctive face, microphthalmia, genital anomalies, and SHFM are described. Molecular analyses of TP63 , HOXA13 , and HOXD13 genes were normal. We propose this pattern to be a newly recognized SHFM syndrome. © 2005 Wiley‐Liss, Inc.