| Literature DB >> 8055131 |
J A Maat-Kievit1, P J Milla, J E Collins, M Baraitser, R M Winter.
Abstract
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.Entities:
Mesh：
Year: 1994 PMID： 8055131
Source DB: PubMed Journal: Clin Dysmorphol ISSN： 0962-8827 Impact factor: 0.816