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PMID: 19433282 已发表 · ppublish 英语

Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.

Pediatric neurology ·第 40 卷 ·第 6 期 ·2009-08-10

Fusco Carlo, Frattini Daniele, Scarano Angela, Giustina Elvio Della

摘要

A 3-year-old female infant with Charcot-Marie-Tooth disease type 1A had congenital pes cavus, normal motor development, and duplication of the peripheral myelin protein 22 gene, PMP22. Her father, carrying the same gene duplication, developed neuropathy, tremor, and auditory impairment beginning in early adulthood. This is a case of congenital pes cavus in a Charcot-Marie-Tooth disease type 1A patient. The infant had pes cavus caused by the hereditary sensorimotor neuropathy; the family provides a clear example of clinical anticipation.

文献信息
期刊
Pediatric neurology
期刊简称
Pediatr Neurol
发表日期
2009-08-10
收录日期
2009-05-12
更新日期
2009-05-12
语言
英语
国家/地区
United States
NLM ID
8508183
分析服务
分析服务

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