NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME

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

Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/38928

Title:

NEWLY RECOGNIZED AUTOSOMAL RECESSIVE FACIOTHORACOSKELETAL SYNDROME

Author(s):

Institution:

Universidade Estadual Paulista (UNESP)

ISSN:

0148-7299

Abstract:

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.

Issue Date:

15-Jan-1994

Citation:

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

Time Duration:

224-228

Publisher:

Wiley-Blackwell

Keywords:

BLEPHAROPHIMOSIS
SMALL EARS
CAMPTODACTYLY
PECTUS EXCAVATUM
CONSANGUINITY
AUTOSOMAL RECESSIVE INHERITANCE

Source:

http://dx.doi.org/10.1002/ajmg.1320490213

URI:

Access Rights:

Acesso restrito

Type:

outro

Source:

http://repositorio.unesp.br/handle/11449/38928

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