Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome | Zendy

GarcíaOrtiz Jose E. | Zendy; BandaEspinoza Felipe | Zendy; Zenteno Juan C. | Zendy; GalvánUriarte Luz M. | Zendy; RuizFlores Pablo | Zendy; GarcíaCruz Diana | Zendy

Premium

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.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research