Acheiropodia: report on four new Brazilian patients
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 |