Cohen syndrome

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Short philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.


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PMID (PMCID)
14738954
 MALE Child
Cohen syndrome with insulin resistance and seizure.
Atabek ME, Keskin M, Kurtoglu S, Kumandas S.
Pediatr Neurol. 2004;30(1):61-3.
The diagnosis of Cohen syndrome is based on the recognition of certain clinical findings, which include mental retardation, typical morphologic stigmata (e.g., truncal obesity, hypotonia, short philtrum, prominent frontal incisors, high-arched palate, narrow hands and feet), and characteristic ophthalmologic abnormalities.
3174485
 FEMALE Child
[Cohen syndrome. Contribution to its clinical delineation].
Lapetina F, Piantoni G, Canino R, Teza F, Ferrarini D.
Pediatr Med Chir. 1988;10(2):217-21.
The authors report a case with features of the Cohen syndrome: characteristic cranio-facial appearance with prominent nasal bridge, short philtrum, prominent upper central incisors, micrognathia, truncal obesity of mid-childhood onset, muscle hypotonia, mental deficiency, limb anomalies associated with other clinical expressivity present among the previous reported cases.