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.