Beckwith Wiedemann Syndrome
- chromosome analysis is usually normal; but 11p duplications and translocations have been found in some cases
- hemihypertrophy and lateral earlobe fissures are distinctive (look for
creases or pits on front and back of pinna, ie may be on helix)
- gigantism, visceromegaly, microcephaly (big body, small head)
- Facies: exopthalmos/prominent eyes with
infraorbital
hypoplasia,
macroglossia,
may be a facial nevus flammeus
- abdominal wall defects: umbilical hernia/omphalocele
- hypoglycemia due to pancreatic islet
cell hyperplasia in 50%
- predisposition to tumors: wilms, hepatoblastoma, adrenal carcinoma,
rhabdomyosarcoma
-
screen with abd US q 3-6 months until reach 6-8 yrs of age to screen for Wilms
- overall risk of malignancy is 7.5%; if hemihypertrophy is absent, 1%