[Cohen's syndrome in 2 sisters].
A new familial observation of Cohen syndrome in two sisters is reported. Both children exhibited the typical features of Cohen syndrome, i.e. obesity, hypotonia, mental deficiency and a dysmorphic syndrome mainly involving the facies and extremities. More accurate delineation of the nosologic limits of this syndrome is ensured by a critical review of the 17 observations published in the medical literature, which include 9 familial cases: the contribution of subsequent observations to the initial description is pointed out. Attention is drawn to the unusual course of the obesity which typically occurs after five years of age, in contrast to common obesities. Furthermore, Cohen syndrome is remarkable by the morphologic abnormalities, particularly those of the facies, which should suggest the diagnosis. As in our observation, data from the literature is in support of autosomic recessive inheritance which implies restrictive genetic counseling.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005149:Facial Expression; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D017880:Limb Deformities, Congenital; D009765:Obesity / Q000235:genetics*; D011628:Puberty, Delayed; D013577:Syndrome
Syndrome de Cohen chez deux seurs.