Beckwith-Widemann syndrome (BWS) is a well recognized clinical syndrome with a complex multi-genetic pathogenesis due to alterations in growth regulatory genes on chromosome 11p15. BWS has a frequency of 1 in 15000 live births. It is classically characterized by a triad of exomphalos, macroglossia and gigantism.Klinefelter syndrome is the most common cause of male hypogonadism with an estimated incidence of 1 in 500-1000 live born males. Chromosome studies most often show a 47 XXY karyotype.We report a newborn with a prenatal diagnosis of Klinefelter syndrome, and diagnosed to also have BWS after birth. This is a rare and interesting association with few previous reports in literature.
|Original language||English (US)|
|Journal||Internet Journal of Pediatrics and Neonatology|
|State||Published - 2009|
- Beckwith-Wiedemann syndrome
- Klinefelter syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health