cri-du-chat (cry of the cat, chromosomal 5p deletion) syndrome

Epidemiology: - incidence: between 1 in 20,000 to 1 in 50,000 births Genetics: - partial aneusomy resulting from chromosome 5p deletion - chromosome 5p15.2 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 Laboratory: - 5p chromosome deletion

General

developmental disorder syndrome (multisystem disorder) genetic syndrome (multisystem disorder)

References

Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038