EMG-SYNDROME - EXOMPHALOS, MACROGLOSSIA, GIGANTISM AND DISTURBED CARBOHYDRATE METABOLISM

The practical significance of the recently discovered syndrome of exomphalos, macroglossia, macrosomia and facultatively a disturbed carbohydrate metabolism is exemplified with some typical cases. Several clinical courses seem possible: Sudden death in the newborn period; survival with cerebral damage after multiple convulsions probably resulting from severe hypoglycemia in the first days or weeks of life; clinical picture simulating myxedema; survival without cerebral damage but with gigantism, genital hypertrophy and latent diabetes with hyperlipidemia. The EMG-syndrome is presented as a 'two-phases-syndrome'. Diagnosis and differential diagnosis are discussed. The latter should include diabetic embryopathy and hypothyreoidism of the newborn and infant. The postnatal development with its possibly increased risk of local tumour formation in an exceptional case, the formal and causal pathogenesis are discussed. © 1969 Springer-Verlag.