| 49, XXXXY Syndrome with Multicystic Kidney in a Neonate |
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Eun Young Park, Soo Jee Moon |
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Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea |
| 신생아기에 발견된 다낭성 신이 동반된 49, XXXXY 증후군 1례 |
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박은영, 문수지 |
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한양대학교 의과대학 소아과학교실 |
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| Abstract |
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The 49, XXXXY Klinefelter variant is distinctive; classic findings include mental retardation, hypogonadism and radioulnar synostosis. Its incidence is estimated to be 1/80,000 to 1/100,000 male births. We report a case of 49, XXXXY syndrome confirmed by chromosomal study in neonatal period, whose clinical features included a coarse face, short neck, micropenis, and other multiple minor anomalies including simian creases. Echocardiography showed patent ductus arteriosus (PDA), and pulmonary hypertension. A multicystic kidney was found by abdominal ultrasonography. |
| Key Words:
49, XXXXY syndrome, Multicystic kidney |
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