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

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

Authors :
Utine GE
Breckpot J
Thienpont B
Alanay Y
Aksoy C
Boduroğlu K
Devriendt K
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2010 Apr; Vol. 152A (4), pp. 947-9.
Publication Year :
2010

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.<br /> ((c) 2010 Wiley-Liss, Inc.)

Details

Language :
English
ISSN :
1552-4833
Volume :
152A
Issue :
4
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Academic Journal
Accession number :
20358606
Full Text :
https://doi.org/10.1002/ajmg.a.33325