spondylocostal dysostosis type 1
Jump to navigation
Jump to search
Genetics
- autosomal recessive
- associated with defects in DLL3 are the cause of spondylocostal dysostosis type 1
Clinical manifestations
- variable severity
- vertebral & rib segmentation defects
- main skeletal malformations include
- fusion of vertebrae
- hemivertebrae
- fusion of certain ribs
- other rib malformations
- deformity of the chest & spine (severe scoliosis, kyphoscoliosis & lordosis) is a natural consequence of the malformation & leads to a dwarf-like appearance
- the thorax is small
Complications
- infants frequently have respiratory insufficiency & repeated respiratory infections resulting in life-threatening complications in the first year of life