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[Léri-Weill dyschondrosteosis].
Rofo : Fortschritte Auf Dem Gebiete Der Rontgenstrahlen Und Der Nuklearmedizin
|May 1, 1983
Summary
Léri-Weill dyschondrosteosis, a genetic disorder causing Madelung
Area of Science:
- Genetics
- Orthopedics
- Radiology
Background:
- Léri-Weill dyschondrosteosis is a rare genetic disorder.
- It is characterized by Madelung's deformity and mesomelic growth retardation.
Observation:
- This report describes three patients with typical radiological findings of Léri-Weill dyschondrosteosis.
- Two patients, a mother and daughter, were studied to confirm inheritance patterns.
Findings:
- The study confirmed autosomal dominant inheritance in a mother-daughter pair.
- Radiological features of Madelung's deformity and growth retardation were observed.
Implications:
- This case series supports the autosomal dominant inheritance of Léri-Weill dyschondrosteosis.
- Understanding the inheritance pattern is crucial for genetic counseling and patient management.