A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism.
Int J Neurosci
; 117(7): 927-33, 2007 Jul.
Article
em En
| MEDLINE
| ID: mdl-17613106
This article describes the case of four brothers, born of a consanguineous couple, that present a severe mental retardation syndrome, coarse facial characteristics, hirsutism, quadrupedal gait (pithecoid walk), small stature, absence of speech, strabismus as well as having small hands and feet. This case seems to be a behavioral syndrome, which was inherited in an autosomal recessive manner not previously recorded.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Consanguinidade
/
Fácies
/
Transtornos Cromossômicos
/
Marcha
/
Hirsutismo
/
Deficiência Intelectual
Limite:
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Int J Neurosci
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Reino Unido