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Published on: November 3, 2016
Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn
Carlo Fusco1, Daniele Frattini, Angela Scarano
1Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. Fusco.Carlo@asmn.re.it
Abstract:
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.
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