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 cataracts, small hands and feet, bone defects, photosensitivity, hypogonadism, 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 herein is the first documentation of a patient with RTS having upper esophageal stenosis.
Güler
O
O
Department of General Surgery, Medical Faculty of Yüzüncü, Yil University, Van, Turkey.
Aydin
M
M
Uğraş
S
S
Kisli
E
E
Metin
A
A
D000328:Adult; D004940:Esophageal Stenosis / Q000150:complications* / Q000473:pathology; D004947:Esophagus / Q000473:pathology; D006801:Humans; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000473:pathology