Cri du chat syndrome: a study of two Tunisian cases

Abstract

Cri du chat syndrome (CdCS) also known as Monosomy 5p, was first described by Lejeune et al. in 1963 and was recognized by the characteristic high-pitched cry during their first years of life and the moon shaped face. This rare genetic condition results from partial or total deletion of the short arm of chromosome 5. The incidence is estimated between 1/15000 and 1/50000 births. Our purpose was to review different aspects of this syndrome, emphasizing the breakthrough introduced by new cytogenetic and molecular techniques, and the orofacial manifestations. Early identification and medical management are key to improving the quality of life. This condition requires a multidisciplinary approach.