Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred.
A patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorders, ie, MPS IVA and infantile hypophosphatasia. Two other families each have one or the other of these diseases but not both. The three families are distantly related.
D002356:Cartilage / Q000473:pathology; D002810:Chondroitinases and Chondroitin Lyases / Q000172:deficiency*; D002811:Chondroitinsulfatases / Q000172:deficiency*; D003241:Consanguinity; D005006:Ethnicity; D005828:Genetics, Population; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000235:genetics* / Q000652:urine; D010375:Pedigree; D011859:Radiography; D012067:Religion; D013577:Syndrome
D006025:Glycosaminoglycans; D002811:Chondroitinsulfatases; D002810:Chondroitinases and Chondroitin Lyases