J Korean Orthop Assoc.  1974 Jun;9(2):235-238. 10.4055/jkoa.1974.9.2.235.

A Case of Hurler's Syndrome

Affiliations
  • 1Department of Orthopaedic Surgery, Catholic Medical College, Seoul, Korea.

Abstract

A 14 months old boy with Hurler's syndrome, manifesting developmental retardation, grotesque facial appearance, dwarfism. kyphosis and hepatosplenomegaly are presented. Roentgenographic examination of the spine showed kyphosis at the upper lumbar region (L 2). and antero-Inferior beak-like projection of the Second lumbar Vertebra. The paper spot test for acid mucopolysaccharide excretion in the urine was positive. The familial background, clinical symptoms and treatment concerning for this condition were briefly discussed.


MeSH Terms

Dwarfism
Humans
Kyphosis
Lumbosacral Region
Male
Mucopolysaccharidosis I*
Spine
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