title: Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis.
abstract: Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low-normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present. Typical metachromatic granules were not seen either in bone-marrow cells or in peripheral blood cells. The X-ray picture showed spondylar and pelvic dysplasia. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin-6-sulfate. The genetic data are consistent with autosomal recessive inheritance.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000652:urine; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002807:Chondroitin / Q000031:analogs & derivatives*; D002809:Chondroitin Sulfates / Q000652:urine*; D003318:Corneal Opacity / Q000235:genetics* / Q000652:urine; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000235:genetics* / Q000652:urine; D010375:Pedigree; D013997:Time Factors
chemical_list: D002807:Chondroitin; D002809:Chondroitin Sulfates