title: Rothmund-Thomson syndrome associated with annular pancreas and duodenal stenosis: a case report.
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.
authors.affiliation: Dermatology Consultation Service, Columbia-Presbyterian Medical Center, New York.
authors.forename: H S
authors.initials: HS
authors.lastname: Blaustein
authors.forename: A W
authors.initials: AW
authors.lastname: Stevens
authors.forename: P D
authors.initials: PD
authors.lastname: Stevens
authors.forename: M E
authors.initials: ME
authors.lastname: Grossman
mesh_terms: D004380:Duodenal Obstruction / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D010182:Pancreatic Diseases / Q000150:complications* / Q000151:congenital / Q000175:diagnosis; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000209:etiology*