Cri du chat syndrome

 

Cri du chat syndrome

Also known as cat cry syndrome

Deletion syndrome

Incidence of 1 in 45000 livebirths

85% cases by de novo partial deletion of short arm of chromosome 5

15% parental translocation involving 5p.

Clinical Features

Mew-like cry early on in life that quickly resolves (apparently related to vocal cord abnormalities) 

Low birth weight 

Hypertelorism

Microcephaly

Down slanting of palpebral fissures of eyes

Flat nasal bridge

Epicanthic folds

Ear shape abnormalities

With advancing age, the clinical manifestations become less striking, making diagnosis more difficult.

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