Two additional cases of the Ohdo blepharophimosis syndrome.
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.
Maat-Kievit
A
A
Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.
Brunner
H G
HG
Maaswinkel-Mooij
P
P
D000015:Abnormalities, Multiple / Q000235:genetics; D016569:Blepharophimosis / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D013577:Syndrome