Metaphyseal Chondrodysplasia, Schmid Type: A Case Report
10.4055/jkoa.1989.24.3.982
- Author:
Sun Ho LEE
;
Jong Deuk RHA
;
Kyung Duck MIN
;
Sung Il YOON
;
Jin Seok YANG
- Publication Type:Case Report
- Keywords:
Metaphyseal Chondrodysplasia;
Schmid type
- MeSH:
Chemistry;
Diagnosis;
Dysostoses;
Ectoderm;
Genetic Diseases, Inborn;
Hand;
Humans;
Kidney;
Lower Extremity;
Osteogenesis;
Osteotomy;
Skull;
Spine
- From:The Journal of the Korean Orthopaedic Association
1989;24(3):982-987
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Metaphyseal Chondrodysplasia is rare, hereditary disease characterized by defective enchondral bone formation with major manifestation at the metaphysis. Jansen originally used the term metaphyseal dysostosis in 1934 to describe a patient who has a short stature with irregular metaphysis of the lower extremity and hands. Schmid reported a milder form of Metaphyseal dysostosis in 1949, which is more common and is transmitted in autosomal dominant trait. Mukusick reported another form of Metaphyseal Chondrodysplasia which is associated with ectodermal abnormalities in 1964. The other different types were reported alos, but they are extremly rare. The basic defect in the disease may be the failure of hypertrophic cells to mature and degenerate, caused by a block in or deficiency of enzymes of glycolytic cycle. The skull and spine are spared. Serum chemistry and kidney function are normal. The only treatment necessary, once adequate diagnosis has been estabilished, is careful observation and properly timed corrective orthopaedic surgery. We experienced one case of Schmid Type Metaphyseal Chondrodysplasia. Corrective osteotomy was performed and satisfactory result was obtained.
