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

✍ Scribed by Gülen Eda Utine; Jeroen Breckpot; Bernard Thienpont; Yasemin Alanay; Cemalettin Aksoy; Koray Boduroğlu; Koenraad Devriendt

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 126 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33325

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✦ Synopsis

Abstract

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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