Journal List > J Korean Radiol Soc > v.8(4) > 1138319

Lee and Oh: Multiple occurance of gargoylism in a family

Abstract

Three patients with multiple occurance of Gargoylism in a family who were admitted to Kyungpook NationalUniversity Hospital were observed. Two cases were siblings and another one was maternal relative with sex linkedrecessive inheritance. Diagnosis of cases were made by laboratory findings of Gargoyle cells in bone marrow andexcessive excretion of mucopolysaccharide in the urine. Charactristic skeletal radiologic findings of threegargoylisms were discussed.

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