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 .

Diseases
Validation

Diseases presenting "corpus callosum" symptom

adrenomyeloneuropathy

alexander disease

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

gm1 gangliosidosis

hirschsprung disease

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

krabbe disease

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

proteus syndrome

pyruvate dehydrogenase deficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

You can validate or delete this automatically detected symptom