ROTHMUND-THOMSON-SYNDROME ASSOCIATED WITH ESOPHAGEAL STENOSIS - REPORT OF A CASE

Rothmund Thomson syndrome (RTS) is a rare autosomal recessive disorder which is primarily diagnosed by clinical manifestations that include poikiloderma, short stature, sparse hair distribution, juvenile catara cts, small hands and feet, bone defects, photosensitivity, hypogonadis m, defective dentition, onychodystrophy, and hyperkeratosis. Although a few reports have been published on patients with RTS associated with gastrointestinal abnormalities, to our knowledge the case described h erein is the first documentation of a patient with RTS having upper es ophageal stenosis.