A case with blepharophimosis resembling Ohdo syndrome.
Another possible sporadic case of the Ohdo blepharophimosis syndrome is described and compared with the seven patients previously reported. It can be considered a distinctive syndrome showing blepharophimosis, ptosis, dental hypoplasia, mental retardation and deafness. This case helps to define the spectrum of the phenotypic anomalies.
Maat-Kievit
J A
JA
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
Milla
P J
PJ
Collins
J E
JE
Baraitser
M
M
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D016569:Blepharophimosis / Q000503:physiopathology*; D001763:Blepharoptosis / Q000503:physiopathology; D002648:Child; D003638:Deafness / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000503:physiopathology; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000503:physiopathology