Cohen syndrome: two new cases in siblings.

[cohen syndrome]

Cohen syndrome is a rare genetic disorder consisting of truncal obesity , hypotonia , mental retardation , characteristic facial appearance and ocular anomalies . Other diagnostic clinical features include narrow hands and feet , low growth parameters , neutropenia and chorioretinal dystrophy . We describe the similarities in the clinical and developmental profile of two siblings with Cohen syndrome , providing evidence for autosomal recessive inheritance in this condition .The diagnosis of Cohen syndrome should be suspected in mentally retarded children with the above characteristics . Neutropenia and ocular anomalies with high -grade myopia and chorioretinal dystrophy are also considered important findings and can aid in the clinical diagnosis especially at an early age .

Diseases
Validation

Diseases presenting "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated