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.
Simplified Medical notes. Medical notes in QnA format Mcqs
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