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Two additional cases of the Ohdo blepharophimosis syndrome.

Authors :
Maat-Kievit A
Brunner HG
Maaswinkel-Mooij P
Source :
American journal of medical genetics [Am J Med Genet] 1993 Nov 01; Vol. 47 (6), pp. 901-6.
Publication Year :
1993

Abstract

Two additional cases of the Ohdo blepharophimosis syndrome are described and compared to the 5 patients previously reported. Blepharophimosis, ptosis, dental hypoplasia, mental retardation, and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia.

Details

Language :
English
ISSN :
0148-7299
Volume :
47
Issue :
6
Database :
MEDLINE
Journal :
American journal of medical genetics
Publication Type :
Academic Journal
Accession number :
8279489
Full Text :
https://doi.org/10.1002/ajmg.1320470618