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Dominant carpotarsal osteochondromatosis
P Maroteaux1, M Le Merrer, H Bensahel
1Clinique Maurice Lamy, Hôpital des Enfants-Malades, Paris, France.
Journal of Medical Genetics
|August 1, 1993
Summary
Dominant carpotarsal osteochondromatosis, a rare bone disorder causing abnormal growth in wrist and ankle joints, affects multiple family members across generations. This autosomal dominant condition impacts both upper and lower limbs, often bilaterally.
Area of Science:
- Orthopedics
- Medical Genetics
- Skeletal Dysplasias
Background:
- Carpotarsal osteochondromatosis is a rare skeletal dysplasia characterized by abnormal bone proliferation and osteochondromas.
- The condition primarily affects the wrist (carpal) and ankle (tibiotalar) joints.
Observation:
- This report details two patients, a mother and son, exhibiting dominant carpotarsal osteochondromatosis.
- A familial pattern was noted, with seven other family members previously affected by a similar condition.
Findings:
- The disorder involves abnormal bone proliferation and the development of osteochondromas.
- Affected individuals present with lesions in both upper and lower limbs, which can be bilateral.
- Autosomal dominant inheritance is a key diagnostic criterion, linking it to dysplasia epiphysealis hemimelica.
Implications:
- Understanding the autosomal dominant inheritance pattern aids in diagnosing this rare skeletal dysplasia.
- Identifying affected family members is crucial for genetic counseling and management.
- Further research into the genetic basis of carpotarsal osteochondromatosis may reveal therapeutic targets.