کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3086208 1581274 2009 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Congenital Pes Cavus in a Charcot-Marie-Tooth Disease Type 1A Newborn
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Congenital Pes Cavus in a Charcot-Marie-Tooth Disease Type 1A Newborn
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 40, Issue 6, June 2009, Pages 461–464
نویسندگان
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