- Case Report
- A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection
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Jung Hyun Lee, Eun Seok Roh, Yoo Rah Hong, Jae Sun Park, Ghi Seok Seo, Bang Hur, Mi Hyang Kim
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Clin Exp Pediatr. 2004;47(12):1351-1355. Published online December 15, 2004
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Rothmund-Thomson syndrome(RTS), or poikiloderma congenita, is a rare, multisystem disorder. It is inherited genetically as an autosomal recessive trait, occurring predominantly in females(1.4 : 1). The RTS is comprised of poikiloderma, short stature, sparse hair, juvenile cataracts, skeletal defects, dystrophic teeth and nails, photosensitivity, and hypogonadism. We report a case of RTS who died of bleeding from esophageal varices, pulmonary... |
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