Cri du chat syndrome: a critical review

Abstract

A new syndrome was identified in 1963, when Lejeune et al. reported a genetic disease resulting from a partial or total deletion on the short arm of chromosome 5 (5p-) and named it the cri du chat syndrome (CdCS). This term makes reference to the main clinical feature of the syndrome, a high-pitched monochromatic cat-like crying, that usually disappears in the first years of life. CdCS is one of the most common chromosomal deletion syndromes in humans, with an incidence of 1:15.000-1:50.000 live-births. Our purpose was to review different aspects of this syndrome (concept, epidemiology, aetiology, clinical features, diagnostic methods and prognosis) emphasizing both: the breakthrough in this field introduced by new cytogenetic and molecular techniques, and the orofacial manifestations most frequently reported. The main orofacial anomalies registered were mandibular microretrognathia, high palate but rarely cleft, variable malocclusion (frequently anterior open-bite), enamel hypoplasia, poor oral hygiene, generalized chronic periodontitis, and retardation of tooth eruption, although there is not enough evidence to support any clear association between these pathologies and the CdCS.