Rothmund Thomson syndrome associated with esophageal stenosis: Report of a case

Guler O., Aydin M., Ugras S., Kisli E., Metin A.

SURGERY TODAY-THE JAPANESE JOURNAL OF SURGERY, cilt.28, sa.8, ss.839-842, 1998 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 8
  • Basım Tarihi: 1998
  • Doi Numarası: 10.1007/s005950050237
  • Dergi Adı: SURGERY TODAY-THE JAPANESE JOURNAL OF SURGERY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.839-842
  • Van Yüzüncü Yıl Üniversitesi Adresli: Hayır

Özet

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.