Acheiropodia: report on four new Brazilian patients


Autoria(s): Fett-Conte, A. C.; Richieri-Costa, A.
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

07/12/2015

07/12/2015

1990

Resumo

We report on 4 new patients with acheiropodia (the handless and footless families of Brazil). This autosomal recessive condition involves all 4 limbs with a well-defined pattern of defects. Two of the patients described here had a small bone fragment in the upper stumps (Bohomoletz bone), an uncommon finding in acheiropodia.

Formato

341-344

Identificador

http://dx.doi.org/10.1002/ajmg.1320360320

American Journal Of Medical Genetics, v. 36, n. 3, p. 341-344, 1990.

0148-7299

http://hdl.handle.net/11449/130774

10.1002/ajmg.1320360320

2363435

Idioma(s)

eng

Relação

American Journal Of Medical Genetics

Direitos

closedAccess

Palavras-Chave #Acheiropodia #Limb congenital anomaly #Autosomal recessive inheritance #Consanguinity
Tipo

info:eu-repo/semantics/article