Cri du chat syndrome
Also known as cat cry 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.
Mew-like cry early on in life that quickly resolves (apparently related to vocal cord abnormalities)
Low birth weight
Down slanting of palpebral fissures of eyes
Flat nasal bridge
Ear shape abnormalities
With advancing age, the clinical manifestations become less striking, making diagnosis more difficult.
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