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A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5
Author(s) -
Kantaputra Piranit N.,
Pongprot Yupada,
Praditsap Oranud,
Phoiam Theeraphong,
Limwongse Chanin
Publication year - 2003
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.20040
Subject(s) - polydactyly , medicine , craniofacial , anatomy , phalanx , ectodermal dysplasia , short stature , hypodontia , orthodontics , dermatology , psychiatry
A Thai girl with a unique combination of limb and craniofacial anomalies is reported. Manifestations include blepharoptosis; prominent nose; hypodontia; multiple, hyperplastic frenula; and dysplastic ears. Limb anomalies include short stature, postaxial polydactyly of both hands and the left foot, proximal and distal symphalangism of fingers, and congenital absence of the distal phalanges of toes 2–5. Mutation analyses of NOG and GDF5 , the genes responsible for symphalangism‐related syndromes, were negative. © 2003 Wiley‐Liss, Inc.