[Cohen's syndrome: non-causal association with vascular rings].

[cohen syndrome]

Cohen syndrome is an autosomal recessive disorder characterized by hypotonia , mental retardation , microcephalia , typical craniofacial features , myopia and chorioretinal dystrophy . The responsible gene has been mapped to chromosome 8 q 22 (COH 1 ). Since it was described more than 100 patients have been reported . However , none of them has been associated with vascular rings . Our hospital has studied eight pediatric cases and 25 % of them were related with vascular rings .

Diseases
Validation

Diseases presenting "craniofacial features" symptom

22q11.2 deletion syndrome

achondroplasia

cohen syndrome

oligodontia

proteus syndrome

wolf-hirschhorn syndrome

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