[Cohen syndrome. A new case and review of the literature].
We report the case of a 12-year-old child suffering from mild mental retardation, hypotonia, long hands with tapering fingers, microcephaly, truncal obesity, particular facial features. The association of these abnormalities has been known as Cohen Syndrome since 1973. Such a dysmorphic syndrome is usually inherited as an autosomal recessive trait whose gene has not been yet localized. There is no biological marker and the diagnosis is made only on a clinical basis. The diagnosis is quite difficult because of the intrafamiliar variation and the lack of a symptom present in 100% of the cases. From the analysis of the literature it proves that the more frequent symptoms are: mental retardation, open mouth, short philtrum, high palate, hypotonia. Because of the diagnostic difficulties it is possible that this syndrome was underestimate. Moreover, it is usually diagnosed too late, (mean age: 12,9). Therefore, we think necessary to consider the possibility of Cohen Syndrome in the case of every mental retardation of unknown cause.
Calzolari
S
S
Unità Operativa di Neuropsichiatria Infantile, Ospedale S. Chiara di Trento.
Ballardini
M
M
De Marco
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology* / Q000235:genetics; D008297:Male; D009765:Obesity / Q000235:genetics; D013577:Syndrome
Sindrome di Cohen. Un nuovo caso e revisione della letteratura.