4 SIBS WITH DISLOCATED ELBOWS, BOWED TIBIAE, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL-RETARDATION - A NEW MCA MR SYNDROME/

Citation
A. Megarbane et al., 4 SIBS WITH DISLOCATED ELBOWS, BOWED TIBIAE, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL-RETARDATION - A NEW MCA MR SYNDROME/, Journal of Medical Genetics, 35(9), 1998, pp. 755-758
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00222593
Volume
35
Issue
9
Year of publication
1998
Pages
755 - 758
Database
ISI
SICI code
0022-2593(1998)35:9<755:4SWDEB>2.0.ZU;2-W
Abstract
We report four sibs with an MCA/MR syndrome whose parents were first c ousins. The sibs had mental retardation, microcephaly, hearing problem s, cataract, and multiple osseous malformations, such as dislocated el bows, bowed tibiae, and scoliosis. Review of published reports and the use of the London Dysmorphology Database suggest that this family pre sents a new syndrome.