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Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion
Author(s) -
Sewell Adrian C.,
Wern Christine,
Pontz Bertram F.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03101.x
Subject(s) - glycosaminoglycan , excretion , dwarfism , endocrinology , dysplasia , medicine , urinary system , chondroitin , mucopolysaccharidosis , pathological , chemistry , biochemistry , gene
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.