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Miller postaxial acrofacial dysostosis. The phenotypic changes with age.

作者信息

Chrzanowska K, Fryns J P

机构信息

Department of Human Genetics, Memorial Hospital Child Health Centre, Warsaw, Poland.

出版信息

Genet Couns. 1993;4(2):131-3.

PMID:8357564
Abstract

We report data on the clinical and psychological follow-up of a boy with Miller postaxial acrofacial dysostosis syndrome between the ages of 1 and 7 years. After an initial psychomotor retardation intellectual and social function improved significantly after the use of hearing aids (50-70 db bilateral hearing loss). The facial appearance changed with age: the face became asymmetric and triangular with more pronounced ectropion and fine, thin lips.

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