NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME

Artículos de revistas

Fecha

1994-01-15

Registro en:

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

0148-7299

http://hdl.handle.net/11449/38928

10.1002/ajmg.1320490213

WOS:A1994MP33000012

6250622352641608

Autor

Universidade Estadual Paulista (Unesp)

Institución

Universidade Estadual Paulista (Brasil)

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.

Materias

AUTOSOMAL RECESSIVE INHERITANCE

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