Agenesis of the corpus callosum, camptodactyly and obesity.

[cohen syndrome]

We report a 16 -year -old girl with agenesis of the corpus callosum , congenital heart disease (ventricular septal defect and abnormal venous return ), 5 th digit camptodactyly and obesity , born to first cousin Italian parents . Although this child shares features with acrocallosal syndrome and Camera-Marugo-Cohen syndrome , we think that this combination of anomalies allows the delineation of a new MCA /MR syndrome , possibly recessively inherited .