The expanding spectrum of Elejalde syndrome: overlap with other disorders of overgrowth.

The fetus had a globular external appearance with distended thickened skin. The neck appeared short with redundant tissue (Fig. 1a and b). The face was bloated with eyes buried in thick palpebral folds, ears were low set and abnormally folded and in the skull there was no evidence of craniosynostosis. The chest appeared broad and short with two normally placed nipples and the limbs micromelic. The abdomen was grossly distended and the umbilical stump showed two vessels, the external genitalia were normal male and there was anal atresia. The spine appeared grossly normal. There were ecchymotic patches on the face and abdomen but the skin did not show any other pigmentary abnormalities. The weight of the baby was more than 95th centile for gestation whereas other anthropometric measurements were at 50th centile for 33 weeks (Table 1).