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Newly recognized autosomal recessive faciothoracoskeletal syndrome
A Richieri-Costa1, M L Guion-Almeida, J R Lauris
1Serviço de Genética Clínia, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
American Journal of Medical Genetics
|January 15, 1994
Abstract:
We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachycamptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome.