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A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis
Author(s) -
Utine Gülen Eda,
Breckpot Jeroen,
Thienpont Bernard,
Alanay Yasemin,
Aksoy Cemalettin,
Boduroğlu Koray,
Devriendt Koenraad
Publication year - 2010
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.33325
Subject(s) - brachydactyly , short stature , microcephaly , ptosis , medicine , hearing loss , pediatrics , audiology , surgery
In 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an established entity. © 2010 Wiley‐Liss, Inc.