Previously unrecognized congenital progeroid disorder.
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.
Petty
E M
EM
Department of Pediatrics, University of Wisconsin-Madison Medical School.
Laxova
R
R
Wiedemann
H R
HR
D000015:Abnormalities, Multiple; D000328:Adult; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D011371:Progeria / Q000151:congenital*