A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis | Zendy

Utine Gülen Eda | Zendy; Breckpot Jeroen | Zendy; Thienpont Bernard | Zendy; Alanay Yasemin | Zendy; Aksoy Cemalettin | Zendy; Boduroğlu Koray | Zendy; Devriendt Koenraad | Zendy

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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.

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