AUTOSOMAL RECESSIVE SYNDROME OF MACROCEPHALY, MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIAL APPEARANCE

Authors
ALGAZALI LI BAKALINOVA D
Citation
Li. Algazali et D. Bakalinova, AUTOSOMAL RECESSIVE SYNDROME OF MACROCEPHALY, MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIAL APPEARANCE, Clinical dysmorphology, 7(3), 1998, pp. 177-184
Citations number
20
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical dysmorphology → ACNP
ISSN journal
09628827
Volume
7
Issue
3
Year of publication
1998
Pages
177 - 184
Database
ISI
SICI code
0962-8827(1998)7:3<177:ARSOMM>2.0.ZU;2-P
Abstract
We report an inbred Omani family with four children in two sibships af fected with a recessive type of multiple epiphyseal dysplasia, associa ted with macrocephaly frontal lobe atrophy on CT scan of the brain, ly mphoedema and a distinctive facial appearance. We suggest that the con stellation of abnormalities in these children represents a previously undescribed syndrome. Clin Dysmorphol 7: 177-184. (C) 1998 Lippincott- Raven Publishers.