Journal List > J Korean Orthop Assoc > v.9(3) > 1143822

Kim, Chung, Jyu, Rhee, and Kim: Morphological analysis of 6 cases of Achondroplasia

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.

REFERENCES

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Table 1
Clinical Findings
Head enlargement Depression of root of the nose Lordosis Waddling gait Disfigured limbs due to rolls of fat
1. marked marked marked marked marked
2. marked marked marked marked marked
3. moderate moderate marked marked marked
4. marked marked marked marked marked
5. normal normal normal moderate moderate
6. moderate normal normal normal normal
Table 6
Radiological Findings
Tubular bones Pelvis Coxa vara deformity Sella turcica Spine
1. short & broad narrow rectangular moderate normal normal
2. short & broad narrow rectangular moderate normal anterior
3. short moderately marked narrow kidney shape moderate shallow kyphosis
4. short & broad narrow rectangular moderate shallow anterior wedging
5. short moderately narrow rectangular moderate normal normal
6. normal normal normal bridge on interckinoidlig.
Table 7
Iliac Index and Neck-shaft Angle of the Femur
Neck-shaft angle Acetabular angle Iliac angle Iliac index
Rt. Lt. Rt. Lt. Rt. Lt.
1. 153 146 15 20 65 63 81.5
2. 134 126 10 9 53 55 63.5
3. 120 125 0 0 35 25 30
4. 125 122 23 15 55 56 74.5
5. 130 135 20 17 33 45 57.5
6. 147 150 4 5 46 40 29.5
ave 134.8 134 12 11 48 47.3 55.9
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