We describe a male infant with findings typical of Schinzel-Giedion sy
ndrome. Characteristic features include: midface retraction, widely pa
tent fontanelles, hirsutism, choanal stenosis, hypospadias with chorda
e, club feet and broad ribs. The patient suffered from seizures and di
ed at 14 months of age of fulminant bronchopneumonia. Pathological exa
mination revealed steatosis in the liver as well as lipid vacuolizatio
n of the zona fasciculata of the adrenals.