Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome

• Published in: Journal of medical genetics Vol. 35; no. 9; pp. 755 - 758
• Main Authors: Mégarbané, A, Kharrat, K, Kreichati, G
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-09-1998; BMJ; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - diagnostic imaging; Adolescent; Adult; Biological and medical sciences; Cataract; Child; Complex syndromes; Consanguinity; Deafness; Elbow - abnormalities; Elbow - diagnostic imaging; Female; Humans; Intellectual Disability; Joint Dislocations; Lebanon; Male; Medical genetics; Medical sciences; Microcephaly; Nuclear Family; Radiography; Scoliosis; Syndrome; Tibia - abnormalities; Tibia - diagnostic imaging; Human; Nervous system diseases; Cataract; Deformation; Family study; Spine; Diseases of the osteoarticular system; Auditory disorder; Spine disease; Sibling; Microcephaly; Congenital disease; Cerebral disorder; Genetic disease; Hearing loss; Malformation; Scoliosis; Tibia; Autosomal character; Central nervous system disease; ENT disease; Recessive character; Complex syndrome; Elbow
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.35.9.755

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.