| Two Cases of the Rud Syndrome in Siblings. |
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Mi Jeong Lee, Myung Geul Yum, Jung Hwan Choi, Chong Ku Yoon, Hyung Ro Moon |
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Department of Pediatrics,Seoul National University, College of Medicine |
| 가족성 Rud 증후군 2례 |
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이미정, 염명걸, 최중환, 윤종구, 문형노 |
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서울대학교 의과대학 소아과 |
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| Abstract |
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The Rud syndrome, which is characterized by ichthyosis, mental retardation, seizure, dwarfism, sexual infantilism, etc., was described by Rud in 1927 at first. It is hereditary disorder whose mode of inheritance is autosomal recessive. Because the incidence of this syndrome is very rare, the Rud syndrome has not been reported till now in Korea. We experienced two cases of the Rud syndrome in siblings, so we reported here the clinical and laboratory data of these two patients along with brief review of the literatures.
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| Key Words:
The Rud syndrome, Ichthyosis, Autosomal recessive |
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