Back to Search Start Over

A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).

Authors :
Gabbett MT
Clark RC
McGaughran JM
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2008 Feb 15; Vol. 146A (4), pp. 450-2.
Publication Year :
2008

Abstract

We present a case of a male with severe mental retardation, seizure disorder, and absence/hypoplasia of the thumb and great toe nails. This combination of clinical findings has been reported only once previously. We suggest it represents a distinct syndrome. Our case has the additional finding of broad thumbs.

Details

Language :
English
ISSN :
1552-4833
Volume :
146A
Issue :
4
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Academic Journal
Accession number :
18203178
Full Text :
https://doi.org/10.1002/ajmg.a.32129