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Summary
BECKWITH-WIEDEMANN SYNDROME. EXOMPHALOS-MAKROGLOSSIA-GIGANTISM SYNDROME
EMG SYNDROME BECKWITH-WIEDEMANN SYNDROME
130650
OMIM = Online Medalian Inheritance of Men
116
5p35.3, 11p15.4, 11p15.5
  • supportive/symptomatic therapy
rare (1:13700 West-Indies)
sporadic
autosomal recessive
autosomal dominant
symptoms
apnea
birthweight high (large for gestational age)
coarse facial features
ear anomalies (pits, creases)
hemihypertrophy
hepatomegaly (large liver)
hyperinsulinism
hypoglycemia
large mid-face (broad, prominent)
macroglossia, large/protuding tongue
macrosomia
malignant tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma)Wilms)
nephrocalcinosis
nevus flammeus
omphalocele
renal enlargement (large kidneys)
small mid-face (malar or maxillary hypoplasia)
splenomegaly (large spleen)
tall stature
urolithiasis, kidney stones
ventricular septal defect
laboratory finding
Insulin20.0050.003.0023.00mU/lserum
D-Glucose0.201.002.805.00mmol/lserum
Literature
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