chondroitin-sulfates and Bone-Diseases--Developmental

Topics: Bone Diseases, Developmental; Chondroitin Sulfates; Corneal Opacity; Female; Glycosaminoglycans; Humans; Male; Osteochondrodysplasias

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.

Topics: Adolescent; Bone Diseases, Developmental; Chondroitin Sulfates; Diagnosis, Differential; Female; Glycosaminoglycans; Humans; Mucopolysaccharidosis III; Radiography

Chondro-osseous tissue from four patients with the Kniest dysplasia was studied histochemically using a new plastic embedding technique. Extensive vacuolar changes were observed p--1 throughout the endochondral growth plate and adjacent resting cartilage. These changes occurred within the cartilage matrix and also in the lacunae of degenerating chrondrocytes. The septa of the lesions contained chondroitin sulfate, but little keratan sulfate or collagen. Resting cartilage not adjacent to the growth plate stained irregularly and showed few of the vacuolar lesions, and chondrocytes were enlarged and contained cytoplasic inclusions, but no vacuolar material. Thus, there appears to be a sequence of events initiated by cellular accumulation of a substance and progressing to cellular and matrix degeneration.

Topics: Adolescent; Adult; Bone and Bones; Bone Diseases, Developmental; Cartilage; Cartilage Diseases; Child; Chondroitin Sulfates; Collagen; Female; Humans; Hypertrophy; Keratan Sulfate; Proteoglycans; Syndrome

Topics: Adolescent; Bone and Bones; Bone Diseases, Developmental; Calcium; Cartilage; Cartilage Diseases; Child; Chondroitin; Chondroitin Sulfates; Collagen; Female; Glycosaminoglycans; Histocytochemistry; Humans; Keratan Sulfate