Cri-du-chat Syndrome: Background, Pathophysiology, Epidemiology
Cri-du-chat Syndrome
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In 1963, Lejeune et al described a syndrome consisting of numerous congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing sob in infants with a deletion of a B group chromosome (Bp-), later identified as 5p-. [1]
Cri-du-chat syndrome is an autosomal deletion syndrome caused by a partial deletion of chromosome 5p and is characterized by a distinctive, high-pitched, catlike sob in infancy with growth failure, microcephaly, facial abnormalities, and mental retardation across life. Read more
