Autosomal dominant microcephaly with mental retardation
- 30 June 1989
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 33 (3) , 382-384
- https://doi.org/10.1002/ajmg.1320330318
Abstract
A 3‐year‐old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep‐set eyes, short philtrums, and a “beaked” nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3‐year‐old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosomes are normal. This appears to be a first report of a autosomal dominant form of microcephaly associated with mild to moderate mental retardation in contrast to absent or mild mental retardation described in earlier reports.Keywords
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