Cohen syndrome - a rare genetic cause of hypotonia in children.
Maedica (Bucur)
; 5(1): 56-61, 2010 Jan.
Article
em En
| MEDLINE
| ID: mdl-21977120
ABSTRACT
Cohen syndrome is a rare, genetic condition, recessively inherited, associated with specific facial dysmorphism, global developmental delay, hypotonia and ophthalmic abnormalities. A delay in making the diagnosis commonly occurs, because of the lack of a definitive molecular test and also because of the clinical variability of the syndrome. In this paper we describe four cases of Cohen syndrome, together with a comparison with other cases reported in the literature, in order to further delineate this condition.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Maedica (Bucur)
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Romênia