The sixth reported case of the SHORT syndrome is described and is compared with other cases. The child (figs 1 and 2), small with normal growth hormone production, had a striking absence of subcutaneous fat, a triangular shaped, broad forehead, small chin, megalocornea and anteriorsegmentdystrophyoftheeye, bilateralclinodactyly, and normal intellectual development. The child was initially thought to have the Silver-Russell syndrome. The proband, now aged 10, was born at 38 weeks' gestation weighing 2200 g with a length of 48-3 cm. The father was aged 21 and the mother 18 at his birth and they were non-consanguineous, white Australians. There was no family history of dwarfism or birth defects. The paternal grandmother has insulin dependent diabetes and is 160 cm tall.