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中英关联术语

雅各布森综合症

Jacobsen Distal 11q Deletion Syndrome

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A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia.

中文名称索引;定义为 MeSH 英文原文,尚未逐条译审。MESH:D054868 · MeSH 2026。

Courtesy of the U.S. National Library of Medicine. Annual snapshot; later updates may not be reflected. NLM does not endorse this service.

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