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
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.