Orginal Publication Date
MCV/Q, Medical College of Virginia Quarterly
Recent developments in tissue culture and enzyme analysis have made it possible to classify more precisely some of the skeletal dysplasias and to understand their pathophysiology; thus almost all seven clinical types of mucopolysaccharidoses are due to separate single enzyme deficiencies – one type, the Sanfilippo syndrome, has three subtypes, each with a different enzyme deficiency. The majority of the skeletal dysplasias have no definable biochemical abnormality and are classified on the basis of clinical and radiological findings and the mode of inheritance. The purpose of this report is to present a family with an apparently new type of chondrodystrophy.
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