49, XXXXY Syndrome with Multicystic Kidney in a Neonate.
- Author:
Eun Young PARK
1
;
Soo Jee MOON
Author Information
1. Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
49, XXXXY syndrome;
Multicystic kidney
- MeSH:
Ductus Arteriosus, Patent;
Echocardiography;
Humans;
Hypertension, Pulmonary;
Incidence;
Infant, Newborn*;
Intellectual Disability;
Male;
Multicystic Dysplastic Kidney*;
Neck;
Parturition;
Synostosis;
Ultrasonography
- From:Journal of the Korean Pediatric Society
2001;44(6):714-717
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The 49, XXXXY Klinefelter variant is distinctive; classic findings include mental retardation, hyp ogonadism 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.