cri-du-chat (cry of the cat, chromosomal 5p deletion) syndrome
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Epidemiology
- incidence: between 1 in 20,000 to 1 in 50,000 births
Genetics
- partial aneusomy resulting from chromosome 5p deletion
Clinical manifestations
- microcephaly
- round face
- antimongoloid slant of palpebral fissures
- hypertelorism
- micrognathia
- epicanthal folds
- low-set ears,
- hypotonia
- severe psychomotor retardation
- mental retardation
- ventricular septal defect
- high-pitched cat-like cry in newborn infants
- majority of patients die in early childhood
More general terms
References
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038