| Literature DB >> 8346112 |
H S Blaustein1, A W Stevens, P D Stevens, M E Grossman.
Abstract
The Rothmund-Thomson syndrome is a rare autosomal recessive condition. It is primarily a clinical diagnosis with manifestations that include poikiloderma, short stature, sparse hair, juvenile cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, defective dentition, onychodystrophy, and hyperkeratosis. There is only one published case of associated gastrointestinal abnormalities. We report a patient with Rothmund-Thomson syndrome with annular pancreas and duodenal stenosis.Entities:
Mesh:
Year: 1993 PMID: 8346112 DOI: 10.1111/j.1525-1470.1993.tb00046.x
Source DB: PubMed Journal: Pediatr Dermatol ISSN: 0736-8046 Impact factor: 1.588