Beckwith-Wiedemann syndrome: A case report / Philippine Journal of Obstetrics and Gynecology

ABSTRACT

Beckwith-Wiedemann Syndrome (BWS) is a rare congenital overgrowth disorder due to alterations in specific genes in chromosome 11p15. It has a variable clinical picture. Infants may exhibit a combination of the following characteristics macroglossia, macrosomia, abdominal wall defects, ear creases or posterior helical pits, hypoglycemia, polyhydramnios and prematurity. Presented is a case of a 24-year-old gravida 3 para 2 (2002) who manifested with preterm labor and polyhydramnios. She delivered a preterm live baby girl who was diagnosed to have Beckwith-Wiedemann syndrome. The rarity of this condition, as well as the significant maternal and perinatal complications associated with it, is discussed in this paper.