[Compound Hurler-Scheie disease in 3 siblings].
The present paper describes 3 out of a total of 9 siblings, aged 9, 17, and 18, with the following symptoms: gargoyle-like facial features, clouding of the cornea in both eyes, dysostosis multiplex, slightly impaired intelligence, hepatosplenomegaly, umbilical hernia, and increased secretion of mucopolysaccharides in the urine, in particular dermatan and heparan sulfate. Some of the symptoms are mid-way between those of Hurler's and Scheie's syndromes, both having the same deficiency of the enzyme alpha-1-iduronidase. McKusik developed the theory that the genes responsible for the clinical pictures of Hurler's and Scheie's syndromes are alleles and hence cases such as those described here should be considered as allelomorphic compounds.
D000293:Adolescent; D002386:Cataract / Q000235:genetics; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007068:Iduronidase / Q000172:deficiency; D008297:Male; D009083:Mucopolysaccharidoses / Q000235:genetics*; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity
D007068:Iduronidase
Morbus Hurler-Scheie-Compound bei drei Geschwistern.