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Title: Pre- 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?
Authors: Fryns, Jean-Pierre ×
Lagae, Lieven
Rizzo, W B #
Issue Date: Oct-1998
Series Title: Clinical dysmorphology vol:7 issue:4 pages:275-7
Abstract: 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 grade 2 and hydro-uretero nephrosis, postaxial polydactyly type B on the right hand. Normal fibroblast enzyme activities of fatty aldehyde dehydrogenase and NADPH cytochrome C reductase were not consistent with the diagnosis of Sjögren-Larsson syndrome. The nosology of 'bird-headed' dwarfism is briefly discussed.
ISSN: 0962-8827
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Brain & Metabolism Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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