Otro
NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME
Registro en:
American Journal of Medical Genetics. New York: Wiley-liss, v. 49, n. 2, p. 224-228, 1994.
0148-7299
10.1002/ajmg.1320490213
WOS:A1994MP33000012
Autor
Richiericosta, A.
Guionalmeida, M. L.
Lauris, JRP
Ferreira, D. M.
Resumen
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.