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Article

Newly recognized blepharofacioskeletal syndrome.

American journal of medical genetics - 1 Jul 1993

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

Abstract excerpt

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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Identifiers

PMID: 8362901
DOI: 10.1002/ajmg.1320460603

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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