Macroglossia, abnormal umbilicus and hypoglycaemia (Beckwith's syndrome).

The syndrome of exomphalos, macroglossia, postnatal somatic gigantism and severe hypoglycaemia in various combinations was first described in seven infants by Beckwith (1963) and Beckwith et al. (1964). At necropsy the main features were cytomegaly of the foetal adrenal cortex, renal medullary dysplasia, and hyperplasia of the pancreas and kidneys. Wiedemann (1964) reported three siblings of a consanguineous marriage who had macroglossia and exomphalos. The survivor developed post-natal somatic gigantism and accelerated bone growth. Irving (1967) reported eleven children with exomphalos and macroglossia, nine of whom had a birth weight on or above the 90th centile for their gestational age. Ten of the children had a facial naevus, seven had a linear indentation of the ear lobe and three had a dome-like elevation of the posterior part of the diaphragm. The six surviving children developed a characteristic facies with prognathos, mid-facial under development and slight exophthalmos, and a mid-line frontal ridge. Postnatal somatic gigantism occurred in five of the six survivors. A further seven cases with macroglossia and umbilical abnormality were reported by Shafer (1968). Severe hypoglycaemia and birth weight above the mean for their gestational age were the main features of the three cases reported by Combs, Grunt & Brandt (1966). The principal features of the previously reported cases are shown in Table 1. Two further cases are reported who developed hypocalcaemia, in addition to the main features already described. One survived and now has hemihypertrophy.