NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME

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Data

1994-01-15

Autores

Richiericosta, A.
Guionalmeida, M. L.
Lauris, JRP
Ferreira, D. M.

Título da Revista

ISSN da Revista

Título de Volume

Editor

Wiley-Blackwell

Resumo

We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachy-camptodactyly, and sacral dimple. We suspect that these patients represent a previously undescribed autosomal recessive syndrome. (C) 1994 Wiley-Liss, Inc.

Descrição

Palavras-chave

BLEPHAROPHIMOSIS, SMALL EARS, CAMPTODACTYLY, PECTUS EXCAVATUM, CONSANGUINITY, AUTOSOMAL RECESSIVE INHERITANCE

Como citar

American Journal of Medical Genetics. New York: Wiley-liss, v. 49, n. 2, p. 224-228, 1994.