- Case Report
- A Case of Rubinstein-Taybi Syndrome.
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Won Hee Baik, Mee Ran Roh, Young Chang Kim, Hyung Jin Choi, Sang Jhoo Lee
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Clin Exp Pediatr. 1984;27(12):1244-1249. Published online December 31, 1984
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Rubinstein-Taybi syndrome is a new complex of physical findings consisting primarily of
broad thumbs, broad great toes and facial abnormalities, associated with mental retardation.
We have experienced a case of Rubinstein-Taybi syndrome in a 5month-old male infant
who had two recurrent pneumonia a竹acks. The diagnosis was easily established by clinical
features and radiologic examinations.
So a brief review of the pertinent literatures is given.
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- Two Cases of Late Infantile Metachromatic Leukodystrophy.
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Mee Ran Roh, Kyeong Wha Lee, Dong Whan Lee, Sang Jhoo Lee, Dong Wha Lee, Duk Yong Kang, Tae Jung Kwon, Jung Sook Kim
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Clin Exp Pediatr. 1984;27(10):1033-1039. Published online October 31, 1984
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Metachromatic leukodystrophy, a group of progressive degenerative neurologic disease with variable age of onset characterized by an autosomal recessive mode of inheritance, shows an accumulation of the sphingolipid, sulfatide, particularly in the Schwann cell of the central and peripheral nervous system by arysulfatase A deficiency.
2 cases of late infantile metachromatic leukodystrophy are reported, who developed normally during a infantile period,... |
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