title: A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents.
abstract: We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.
authors.affiliation: Department of Paediatrics, FMHS, UAE University, Al Ain, United Arab Emirates.
authors.forename: L I
authors.initials: LI
authors.lastname: al Gazali
authors.forename: K
authors.initials: K
authors.lastname: Sabrinathan
authors.forename: K G
authors.initials: KG
authors.lastname: Nair
mesh_terms: 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