Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these children represents a previously undescribed syndrome.
al-Gazali
L I
LI
Department of Paediatric and Radiology, Faculty of Medicine and Health Sciences, UAE.
Bakalinova
D
D
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001284:Atrophy; D002648:Child; D003241:Consanguinity; D019465:Craniofacial Abnormalities; D019066:Facies; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias; D010375:Pedigree; D011859:Radiography; D013577:Syndrome