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?
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.
Fryns
J P
JP
Centre for Human Genetics, University Hospital Gasthuisberg, University of Leuven, Belgium.
Lagae
L
L
Rizzo
W B
WB
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000150:complications; D005317:Fetal Growth Retardation / Q000150:complications*; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D006869:Hydronephrosis / Q000150:complications; D007021:Hypospadias / Q000150:complications; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009128:Muscle Spasticity / Q000473:pathology; D017689:Polydactyly / Q000150:complications; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis; D012871:Skin Diseases / Q000150:complications*; D013577:Syndrome