title: Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.
abstract: We report four sibs with an MCA/MR syndrome whose parents were first cousins. The sibs had mental retardation, microcephaly, hearing problems, cataract, and multiple osseous malformations, such as dislocated elbows, bowed tibiae, and scoliosis. Review of published reports and the use of the London Dysmorphology Database suggest that this family presents a new syndrome.
authors.affiliation: Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
authors.forename: A
authors.initials: A
authors.lastname: Mégarbané
authors.forename: K
authors.initials: K
authors.lastname: Kharrat
authors.forename: G
authors.initials: G
authors.lastname: Kreichati
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000293:Adolescent; D000328:Adult; D002386:Cataract; D002648:Child; D003241:Consanguinity; D003638:Deafness; D004550:Elbow / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D004204:Joint Dislocations; D007861:Lebanon; D008297:Male; D008831:Microcephaly; D009679:Nuclear Family; D011859:Radiography; D012600:Scoliosis; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging