Complex genetic disorder with principle features including macrosomia, macroglossia, and omphalocele

Macroglossia most consistent finding

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  Persistent protruding tongue throughout exam with inability to close mouth

Kidneys are large, but often normal echogenicity with hypoechoic pyramids preserved

Hepatomegaly common

Large abdominal circumference

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  Combination of nephromegaly and hepatomegaly

Omphalocele, usually small

Placental mesenchymal dysplasia, which appears as thickened, cystic placenta

Macrosomia associated with maternal diabetes

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  Large size from increased subcutaneous fat, not organomegaly

Increased risk in couples who have undergone various assisted reproductive technologies

Increased frequency in monozygotic twins

Airway difficulties; potentially life-threatening at delivery if macroglossia severe

Increased risk of embryonal tumors in childhood, including Wilms tumor, hepatoblastoma, and neuroblastoma

Ensure tongue is persistently protruded throughout exam

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  With macroglossia, fetus unable to retract tongue (tongue bigger than mouth)

Be suspicious when omphalocele present and abdominal circumference large

Measure kidneys and evaluate echogenicity

Look at liver in coronal plane to get best impression of size