Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

603133

Mode of Inheritance

Autosomal recessive?

Description

This is an extremely rare condition characterized by microcephaly, hearing impairment, scoliosis, dislocated elbows, bowed tibias, and mental retardation. 

Epidemiology in the Arab World

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Other Reports

Lebanon

Mégarbané et al (1998) described four siblings with mental retardation, microcephaly, hearing problems, cataract, and multiple osseous malformations, such as dislocated elbows, bowed tibiae, and scoliosis. They considered this to be a new MCA/MR syndrome. The children were the product of a consanguineous union.

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