Related Experiment Videos
Campomelic dysplasia associated with mandibular clefting
1Karadeniz Technical University, Faculty of Medicine, Department of Pediatrícs, Trabzon, Turkey.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1996
Summary
Campomelic dysplasia (CD) is a lethal newborn dwarfism. This study reports a novel finding of a mandibular cleft in a patient with this rare skeletal disorder.
Area of Science:
- Genetics and developmental biology
- Skeletal dysplasias
- Pediatric medicine
Background:
- Campomelic dysplasia (CD) is a severe, often lethal, skeletal dysplasia affecting newborns.
- Characterized by rhizomelic dwarfism, bowed long bones, and diverse skeletal and extraskeletal anomalies.
- Previously described variants include long-limbed and short-limbed types with various clinical presentations.