Abstract
Cri-du-chat syndrome is a genetic disease resulting from a deletion occurring on the short arm of chromosome 5 (5p–). The incidence ranges from 1:15000 to 1:50000 live-born infants. Its main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and intellectual disability. The diagnosis is based on typical clinical manifestations. Karyotype analysis and, in doubtful cases, fluorescence in situ hybridization analysis will confirm the diagnosis. There is no specific therapy for cri-du-chat syndrome but early rehabilitative and educational interventions improve the prognosis, and considerable progress has been made in the social adjustment of patients.
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