Hurler syndrome with special reference to histologic abnormalities of the growth plate

CP Silveri, FS KAPLAN, MD FALLON… - Clinical Orthopaedics …, 1991 - journals.lww.com
Hurler syndrome is a mucopolysaccharide disorder resulting from an heritable deficiency in
alpha-L-iduronidase, an enzyme required in the catabolism of heparan sulfate and
dermatan sulfate glycosaminoglycan (GAGS). The resultant intra-cellular accumulation of
GAG leads to disruption of the intracellular and extracellular environment and dysfunction of
multiple organ systems. Among the most noted manifestations of this disease is
disproportionate short trunk dwarfism, which develops during the first years of life …