ROTHMUND-THOMSON SYNDROME-ASSOCIATED WITH ANNULAR PANCREAS AND DUODENAL STENOSIS - A CASE-REPORT

Citation
Hs. Blaustein et al., ROTHMUND-THOMSON SYNDROME-ASSOCIATED WITH ANNULAR PANCREAS AND DUODENAL STENOSIS - A CASE-REPORT, Pediatric dermatology, 10(2), 1993, pp. 159-163
Citations number
NO
Categorie Soggetti
Dermatology & Venereal Diseases",Pediatrics
Journal title
ISSN journal
07368046
Volume
10
Issue
2
Year of publication
1993
Pages
159 - 163
Database
ISI
SICI code
0736-8046(1993)10:2<159:RSWAPA>2.0.ZU;2-A
Abstract
The Rothmund-Thomson syndrome is a rare autosomal recessive condition. It is primarily a clinical diagnosis with manifestations that include polkiloderma, short stature, sparse hair, juvenile cataracts, small h ands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis. There is only one pub lished case of associated gastrointestinal abnormalities. We report a patient with Rothmund-Thomson syndrome with annular pancreas and duode nal stenosis.