Beckwith-Wiedemann syndrome in a patient with Klinefelter syndrome

Aliva De, Sourav Sen, Christina Flora, Jennifer Ibrahim, Adel Zauk

Research output: Contribution to journalArticle

Abstract

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 languageEnglish (US)
JournalInternet Journal of Pediatrics and Neonatology
Volume10
Issue number2
StatePublished - Dec 1 2009

Keywords

  • BWS
  • Beckwith-Wiedemann syndrome
  • Klinefelter syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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