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词条 cri-du-chat syndrome
释义
cri-du-chat syndrome
pathology
rare congenital disorder caused by partial deletion of the short arm of chromosome 5, characterized by mental retardation, mild facial abnormalities, anomalies of dermal ridge patterns (fingerprints, palm prints, and footprints), heart malformations, a failure to thrive, and a high-pitched, wailing cry likened to that of a cat (the name is French for “cat cry”).
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更新时间:2025/4/30 10:52:46