Maedica (Buchar). 2010 Jan;5(1):56-61.

Cohen syndrome - a rare genetic cause of hypotonia in children.

Budisteanu M, Barca D, Chirieac SM, Magureanu S.

Source

Pediatric Neurology Department, "Prof. Dr. Alexandru Obregia" Psychiatry Clinical Hospital, Bucharest, Romania.

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.

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