title: Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion.
abstract: A 15-year-old girl is described with brachyolmia. She presented with short-trunked dwarfism, hypolordosis of the lower spine and radiological features of the disease. She was initially considered to have a mucopolysaccharidosis (type III Sanfilippo) on account of a pathological urinary glycosaminoglycan excretion pattern. The amount of urinary glycosaminoglycans was normal, but we found an increased amount of an undersulphated chondroitin sulphate molecule. Our finding of an undersulphated glycosaminoglycan points to a disturbance in chondroitin sulphate synthesis, and it is rare that a defect in glycosaminoglycan synthesis leads to a skeletal dysplasia. To our knowledge, this is the second case of brachyolmia with a possible defect in chondroitin sulphate-sulphotransferase.
authors.affiliation: Universitäts-Kinderklinik Frankfurt, Germany.
authors.forename: A C
authors.initials: AC
authors.lastname: Sewell
authors.forename: C
authors.initials: C
authors.lastname: Wern
authors.forename: B F
authors.initials: BF
authors.lastname: Pontz
mesh_terms: D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000652:urine*; D002809:Chondroitin Sulfates / Q000096:biosynthesis; D003937:Diagnosis, Differential; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine*; D006801:Humans; D009084:Mucopolysaccharidosis III / Q000175:diagnosis; D011859:Radiography
chemical_list: D006025:Glycosaminoglycans; D002809:Chondroitin Sulfates