title: Hurler/Scheie phenotype. Report of an inbred sibship with tapeto-retinal degeneration and electron-microscopie examination of the conjuctiva.
abstract: An inbred sibship with corneal opacities and deficient alpha-L-iduronidase activity showed signs of a Hurler/Scheie phenotype. The children were of normal intelligence. In one of the children, electron microscopy of the conjunctiva showed membrane-bound intracellular vacuoles and the electroretinogram was extinguished. The consanguinity of the parents is taken to indicate the presence of homozygosity of a mutant gene different from both the Hurler and Scheie mutants, thus rejecting the concept of a genetic compound in our patients.
mesh_terms: D002648:Child; D002675:Child, Preschool; D003228:Conjunctiva / Q000648:ultrastructure*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000648:ultrastructure; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009083:Mucopolysaccharidoses / Q000235:genetics*; D008059:Mucopolysaccharidosis I / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D014787:Vision Tests
chemical_list: D006025:Glycosaminoglycans