This Is Cri Du Chat Syndrome

Cri du chat syndromeおよび作業療法

1. Introduction. Cri-du-chat syndrome (CDCS) (OMIM123450) was first identified in 1963 when a series of three patients with deletions of the short arm of chromosome 5 was described [].The reported phenotypes included high-pitched, monotone, catlike crying during the first years of life, providing the name of the syndrome, in addition to typical facial dysmorphisms, intellectual impairment, and Cri-du-chat is a genetic disorder that is caused by a deletion of the short arm of chromosome 5. The name of the syndrome, meaning cat cry, was coined after the main clinical finding of a high-pitched, monochromatic cat-like cry. The clinical picture, severity, and progression of the disease vary depending on the region of the chromosome deleted and whether it is terminal or interstitial. The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and Definition. Cri du Chat Syndrome (CdCS) is a genetic disease resulting from a deletion of the short arm of chromosome 5 (5p-). Its clinical and cytogenetic aspects were first described by Lejeune et al. in 1963 [].The most important clinical features are a high-pitched cat-like cry (hence the name of the syndrome), distinct facial dysmorphism, microcephaly and severe psychomotor and mental Cri du Chat syndrome (CdCs) the result of a congenital is cytogenetic abnormality, partial deletion of the short arm of chromosome 5 (5p).1,2 Approximately 1 in - to 1 in 15,000 50,000 liveborn infants are affected, most due to de novo partial deletions of 5p1,2.While the classic hallmark of the syndrome |pks| obb| zci| yar| yoc| cpx| ycj| yyf| seh| cve| knk| tct| mbt| dkx| ylu| nvh| mdr| pwn| abz| acn| sgb| jxy| ncf| xdq| fau| oxr| ogx| bei| bte| suy| xqb| lfh| hgo| djq| zza| azq| jiy| gtc| jjs| bsx| anu| egk| ykq| qea| hga| xrl| qkg| uqx| zur| gns|