11 Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 607
BWS, exomphalos-macroglossia-gigantism syndrome
Exomphalos, macroglossia, gigantism, hemihypertro- phy, visceromegaly
Frequency: 1 in 15,000–20,000 births.
Genetics
Complex including autosomal dominant (OMIM 130650) with variable penetrance, contiguous gene duplication at 11p15.4, maternal imprinting, paternal imprinting. Unipaternal disomy or a mutaton in CDKN1C accounts for 30% of cases; 60% of patients exhibit demethylation of KvDMR1 region of the KCNQ1OT gene, or hypermethylation of the H19 gene (10%). A number of patients have mutations in the NSD1 gene, which also accounts for Sotos syndrome.
Clinical Features
• Babies large at birth
• Hemihypertrophy
• Coarse facial features
• Frontal nevus flammeus, mild exophthalmos, midfacial recession
• Macroglossia
• Linear ear creases
• Omphalocele
• Visceromegaly
• Neonatal hypoglycemia
• Increased risk of intra-abdominal malignancy, especially Wilms tumor
Differential Diagnosis
• Perlman syndrome
• Hemihypertrophy
• Other overgrowth syndromes
Radiographic Features Skull and Face
• Mild microcephaly
• Persistent anterior fontanel, prominent metopic ridge
• Mandibular prognathism Chest
• Pectus excavatum or carinatum Abdomen
• Nephromegaly, hepatomegaly
• Adrenal calcification Generalized Bone Defects
• Advanced skeletal age up to age of 4–6 years Extremities
• Metaphyseal widening and cortical thickening of long bones
• Postaxial polydactyly, clinodactyly
B
Fig. 11.1. Patient 1 at 2 months. Macroglossia, visceromegaly, and prominent abdomen, with diastasis of the recti muscles
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Fig. 11.2. Patient 1 at 6 months. Coarse facial features and macroglossia. Note the baby is large for his age
