| Literature DB >> 9733034 |
A Mégarbané1, K Kharrat, G Kreichati.
Abstract
We report four sibs with an MCA/MR syndrome whose parents were first cousins. The sibs had mental retardation, microcephaly, hearing problems, cataract, and multiple osseous malformations, such as dislocated elbows, bowed tibiae, and scoliosis. Review of published reports and the use of the London Dysmorphology Database suggest that this family presents a new syndrome.Entities:
Mesh:
Year: 1998 PMID: 9733034 PMCID: PMC1051428 DOI: 10.1136/jmg.35.9.755
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318