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Two additional cases of the Ohdo blepharophimosis syndrome
A Maat-Kievit1, H G Brunner, P Maaswinkel-Mooij
1Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.
American Journal of Medical Genetics
|November 1, 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.