J Korean Radiol Soc.  1972 Dec;8(4):331-334. 10.3348/jkrs.1972.8.4.331.

Multiple occurance of gargoylism in a family

• Lee DH
• Oh JS

• KMID: 2346053
• DOI: http://doi.org/10.3348/jkrs.1972.8.4.331

Abstract

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

Keyword

Bones; abnormalities

MeSH Terms

Bone Marrow
Diagnosis
Gyeongsangbuk-do
Humans
Mucopolysaccharidosis I*
Siblings
Wills