Newly recognized blepharofacioskeletal syndrome.
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.
Richieri-Costa
A
A
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, USP, Bauru, Brazil.
Guion-Almeida
M L
ML
Rodini
E S
ES
Pereira
S C
SC
Cohen
M M
MM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D010641:Phenotype; D013577:Syndrome