Case Reports
doi: 10.1002/ajmg.1320350314.
Previously unrecognized congenital progeroid disorder
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- PMID: 2309786
- DOI: 10.1002/ajmg.1320350314
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Case Reports
Previously unrecognized congenital progeroid disorder
Am J Med Genet.
1990 Mar.
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.
Comment in
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Newly recognized congenital progeroid disorder.Am J Med Genet. 1992 Apr 1;42(6):857. doi: 10.1002/ajmg.1320420627. Am J Med Genet. 1992. PMID: 1554028 No abstract available.
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