| Literature DB >> 10465117 |
A Mégarbané1, R Choueiri, J Bleik, M Mezzina, C Caillaud.
Abstract
We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.Entities:
Mesh:
Year: 1999 PMID: 10465117 PMCID: PMC1762968
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318