2024/12/30 by Chelly I ., Barabaria W ., Belhssan F . +2
#Cri du chat syndrome #chromosome disorders #orofacial manifestation
paper · doi:10.71566/pist-rmp-194635
Cri du chat syndrome (CdCS) also known as Monosomy 5p, was first described by Lejeune et al. in1963 and was recognized by the characteristic high-pitched cry during their first years of life and the moon shaped face. This rare genetic condition resulting from partial or total deletion of the short arm of chromosome 5. The incidence of this condition at birth is estimated to be between 1/15000 and 1/50000 births. This syndrome is responsible for a set of clinical features such as microcephaly, facial dysmorphism, developmental delay and intellectual disability. Our purpose was to review different aspects of this syndrome (concept, epidemiology, clinical fea- tures, diagnostic methods and prognosis), emphasizing both: the breakthrough in this field intro- duced by new cytogenetic and molecular techniques, and the orofacial manifestations most fre- quently reported. Early identification and medical management are key to improving the quality of life of people with this syndrome. Appropriate medical and therapeutic interventions can help mitigate the challenges faced by individuals with Cri du Chat Syndrome and promote their optimal development. This condition requires a multidisciplinary approach involving doctors, therapists, and health care practitioners to provide the best possible care to people with this syndrome.