J Korean Pediatr Soc.  2001 Jun;44(6):714-717.

49, XXXXY Syndrome with Multicystic Kidney in a Neonate

• Park EY
• Moon SJ

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.

Keyword

49, XXXXY syndrome; Multicystic kidney

MeSH Terms

Ductus Arteriosus, Patent
Echocardiography
Humans
Hypertension, Pulmonary
Incidence
Infant, Newborn*
Intellectual Disability
Male
Multicystic Dysplastic Kidney*
Neck
Parturition
Synostosis
Ultrasonography