Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation: a new MCA/MR syndrome.
case_report · Level V
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- Record sourced from PubMed, PMID 9733034.
- Also identified by PMC identifier 1051428.
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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.
Medical subject headings
- Abnormalities, Multiple
- Elbow
- Joint Dislocations
- Syndrome
- Tibia