Denouement and Discussion
Cri Du Chat Syndrome
(Cry of the Cat Syndrome)
Manifestations
The major manifestations include severe mental/motor retardation, microcephaly, rounded facies, ocular hypertelorism, and a cat-like cry. These children are usually small for dates infants who do not thrive. The abnormal cry, present at birth, may be caused by a small larynx, or a larynx which is abnormal in shape or position. The cry remains cat-like for varying periods of time, and, as the infant grows older, it may lose its characteristic quality yet continue to sound abnormal. In addition to the prominent ocular hypertelorism there may be an antimongoloid slant to the eyes, epicanthal folds, strabismus, and optic atrophy. The ears may be low set or prominent or both. Micrognathia and occasionally cleft palate are present. There are various types of congenital heart defects. The retardation is usually severe, and hypotonia may be found in the