A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents.
We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.
al Gazali
L I
LI
Department of Paediatrics, FMHS, UAE University, Al Ain, United Arab Emirates.
Sabrinathan
K
K
Nair
K G
KG
D001284:Atrophy; D003241:Consanguinity; D002658:Developmental Disabilities / Q000000981:diagnostic imaging* / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D013577:Syndrome