title: Cohen syndrome - a rare genetic cause of hypotonia in children.
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.
authors: Pediatric Neurology Department, "Prof. Dr. Alexandru Obregia" Psychiatry Clinical Hospital, Bucharest, Romania.
authors: Magdalena
authors: M
authors: Budisteanu
authors: Diana
authors: D
authors: Barca
authors: Sorina Mihaela
authors: SM
authors: Chirieac
authors: Sanda
authors: S
authors: Magureanu