Maat-Kievit J A, Milla P J, Collins J E, Baraitser M, Winter R M
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
Clin Dysmorphol. 1994 Apr;3(2):125-7.
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.
