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Am J Med Genet. 1993 Nov 1;47(6):901-6.

Two additional cases of the Ohdo blepharophimosis syndrome.

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  • 1Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.

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.

PMID:
8279489
[PubMed - indexed for MEDLINE]
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