Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.
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.
Fusco
Carlo
C
Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. Fusco.Carlo@asmn.re.it
Frattini
Daniele
D
Scarano
Angela
A
Giustina
Elvio Della
ED
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D009185:Myelin Proteins / Q000235:genetics*
D009185:Myelin Proteins; C073687:PMP22 protein, human