PRENATAL-GROWTH AND POSTNATAL-GROWTH RETARDATION, SCALING SKIN, MODERATE MENTAL-RETARDATION AND QUADRISPASTICITY, HYPOSPADIAS GRADE-2 AND HYDRO-URETERO NEPHROSIS, POSTAXIAL POLYDACTYLY - A DISTINCT MCA MR SYNDROME/

We report a moderately mentally retarded 7-year-old male with a unique combination of clinical symptoms and signs: severe pre- and postnatal growth retardation, scaling skin and quadrispasticity, hypospadias gr ade 2 and hydro-uretero nephrosis, postaxial polydactyly type B on the right hand. Normal fibroblast enzyme activities of fatty aldehyde deh ydrogenase and NADPH cytochrome C reductase were not consistent with t he diagnosis of Sjogren-Larsson syndrome. The nosology of 'bird-headed ' dwarfism is briefly discussed. Clin Dysmorphol 7: 275-277 (C) 1998 L ippincott Williams & Wilkins.