Cri-du-chat Syndrome Misdiagnosed as Cerebral Palsy - A Case Report

Regina Divya, Jayalakshmi and

Abstract

Cri du chat (CCS) is a rare chromosomal abnormality characterized by the deletion on short arm of chromosome 5.The clinical features include cat cry, microcephaly, dysmorphic facies, severe psychomotor and mental retardation. The diagnosis is usually based on the clinical phenotype with cat cry. Karyotyping and FISH analysis is used to confirm the diagnosis. We are reporting an eleven year old girl with Cri- du- chat syndrome who had been misdiagnosed as a case of cerebral palsy.

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