Güler O, Aydin M, Uğraş S, Kisli E, Metin A
Department of General Surgery, Medical Faculty of Yüzüncü, Yil University, Van, Turkey.
Surg Today. 1998;28(8):839-42. doi: 10.1007/s005950050237.
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.
罗思蒙德·汤姆森综合征（RTS）是一种罕见的常染色体隐性疾病，主要通过临床表现进行诊断，这些表现包括皮肤异色症、身材矮小、毛发分布稀疏、青少年白内障、手足短小、骨骼缺陷、光敏性、性腺功能减退、牙列缺损、甲营养不良和角化过度。尽管已经有一些关于RTS患者合并胃肠道异常的报道，但据我们所知，本文所描述的病例是首例记录在案的患有RTS且伴有食管上段狭窄的患者。
