2. Academic Validation
  3. Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome

Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome

  • J Med Genet. 1994 Jan;31(1):68-71. doi: 10.1136/jmg.31.1.68.
J C Ramer 1,  D B Vasily,  R L Ladda
Affiliations

Affiliation

  • 1 Department of Pediatrics, Milton S Hershey Medical Center, Pennsylvania 17033.
PMID: 8151643 DOI: 10.1136/jmg.31.1.68
Abstract

A family with five members who have variable findings of leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis is described. The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome. The range of disorders which include knuckle pads as part of the phenotype is reviewed.

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