Clinical and Experimental Pediatrics

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Ghi Seok Seo (Seo GS)

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Case Report

A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection

Jung Hyun Lee, Eun Seok Roh, Yoo Rah Hong, Jae Sun Park, Ghi Seok Seo, Bang Hur, Mi Hyang Kim

Clin Exp Pediatr. 2004;47(12):1351-1355. Published online December 15, 2004

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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