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PubMed · 8362901

Newly recognized blepharofacioskeletal syndrome.

A Richieri-Costa·M L Guion-Almeida·E S Rodini·S C Pereira·M M Cohen
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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.

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Abnormalities, MultipleAdultBlepharophimosisChildFaceFingersHumansPhenotypeSyndromeCase ReportsJournal Article

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A Richieri-Costa, M L Guion-Almeida, E S Rodini, S C Pereira, M M Cohen. 1993-07-01. Newly recognized blepharofacioskeletal syndrome.. https://doi.org/10.1002/ajmg.1320460603

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