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Newly recognized blepharofacioskeletal syndrome
A Richieri-Costa1, M L Guion-Almeida, E S Rodini
1Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.
American Journal of Medical Genetics
|July 1, 1993
Abstract:
A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.