J Korean Orthop Assoc.  1974 Sep;9(3):315-320. 10.4055/jkoa.1974.9.3.315.

Morphological Analysis of 6 Cases of Achondroplasia

Affiliations
  • 1Department of Orthopaedic Surgery Korea General Hospital, Korea.

Abstract

Achondroplasia, one of the most common form of dwarfism, among the Morquio's disease, cretinism, rickets, diastrophic dwarfism and mongolism, is a skeletal inborn error in which the subjects characteristically presents; 1. a pronounced shortness of the extremities (micromelia). 2. some enlargement of the head, associated with a conspicuous depression at the root of the nose. Though the actual cause is unknown, it is resulted from disturbance of enchondral bone formation, and has a tendency to be transmitted as a hereditary, congenital and familial disturbance. They have also well developed musculature and average mental capacity, and therefore, they often appear as circus freaks. Though they have been presented for long ago, there was no report for morphological analysis of them in Korea. Now, we report morphological analysis of 6 cases of achondroplasia on height. sitting height, length of each extremity and skeletal deformities with clinical measures as well as roentgenogram. Age distribution is from 26 to 65 years old. They ranged from 118.5cm to 153cm in height, from 67cm to 87cm in sitting height, and have shortening and deformities of the long bones by roentgenogram.


MeSH Terms

Achondroplasia*
Age Distribution
Congenital Abnormalities
Congenital Hypothyroidism
Depression
Down Syndrome
Dwarfism
Extremities
Head
Korea
Mucopolysaccharidosis IV
Nose
Osteogenesis
Rickets

Reference

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4. Henry L.Metabolic, Degenerative, and Inflammatory diseases of bones and joints. Lea and Febiger. 193–205. 1972.
5. Joseph A., Bailey II M.D.Elbow and Other Upper Limb Deformities in Achondroplasia. Clinical Orthopaedics and Related research. 80:75–78. 1971.
Article
6. Meinhard Robinow M.D.Morquio's disease. Clinical Orthopaedics. 11:138–153. 1958.
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