Schinzel-Giedion syndrome: further delineation of the phenotype

Abstract

We describe a male infant with findings typical of Schinzel-Giedion syndrome. Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs. The patient suffered from seizures and died at 14 months of age of fulminant bronchopneumonia. Pathological examination revealed steatosis in the liver as well as lipid vacuolization of the zona fasciculata of the adrenals.