ISSN : 2347-5447
British Biomedical Bulletin
Abstract
Cri-du-chat Syndrome Misdiagnosed as Cerebral Palsy - A Case Report
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.
Author(s): Regina Divya, Jayalakshmi and Raghava Rao
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