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49, XXXXY Syndrome with Multicystic Kidney in a Neonate

Journal of the Korean Pediatric Society 2001;44(6):714-717.
Published online June 15, 2001.
49, XXXXY Syndrome with Multicystic Kidney in a Neonate
Eun Young Park, Soo Jee Moon
Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea
신생아기에 발견된 다낭성 신이 동반된 49, XXXXY 증후군 1례
박은영, 문수지
한양대학교 의과대학 소아과학교실
Abstract
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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