Previously unrecognized congenital progeroid disorder

Authors

  • Elizabeth M. Petty,

    1. Departments of Pediatrics and Genetics, University of Wisconsin-Madison Medical School, Madison
    Search for more papers by this author
  • Renata Laxova M.D.,Ph.D.,

    Corresponding author
    1. Departments of Pediatrics and Genetics, University of Wisconsin-Madison Medical School, Madison
    • Wisconsin Clinical Genetics Center, Waisman Center, Room 337, University of Wisconsin, Madison, WI 53705-2280
    Search for more papers by this author
  • Hans-Rudolf Wiedemann

    1. Department of Pediatrics, University of Kiel, Kiel, Federal Republic of Germany
    Search for more papers by this author

Abstract

We report on a 5-year-old girl with a progeroid disorder and compare her to a previously reported woman now in her forties, whom she resembles to a striking degree. Common manifestations include pre- and post-natal growth retardation, markedly diminished subcutaneous fat, wrinkled skin, abnormally scant hair growth, hypoplastic distal phalanges with hypoplastic nails, umbilical hernia, large open anterior fontanelle, and normal cognitive and motor development. Both patients have had a prematurely aged appearance since birth. These 2 patients appear so different from previously reported patients with progeroid disorders that they may represent a separate entity.

Ancillary