vertebral segmentation defects

vertebral segmentation defects

description

vertebral segmentation defects refer to a wide spectrum of vertebral body abnormalities that include absent or minimally ossified vertebral bodies, coronal or sagittal clefts, hemivertebrae, butterfly vertebrae, malsegmentation and fusion. these may be isolated findings, be part of specific syndromes or skeletal dysplasias. both the location and pattern of distribution of the defects varies between the disorders. this can be of particular importance in the differential diagnosis.

diagnosis

the spine should be examined carefully as the demonstration of scoliosis or spinal angulation can be the clue to the presence of other vertebral anomalies. longitudinal views of the vertebral bodies allow for comparison between the different segments of the spine, the size of the vertebral bodies and the intervertebral spaces. coronal scans are also useful, particularly in cases of severe vertebral disorganisation (eg; dyssegmental dysplasia, jarcho-levin syndrome) and sagittal clefts. coronal clefts are best seen in cross sectional views of the vertebral bodies. they are characterized by an echolucent band of tissue located between the anterior and posterior echogenic ossification centers of the vertebral body. spinal angulations are usually the result of hemivertebrae. identification of hemivertebrae with a normal spine axis is often difficult and is most often diagnosed postnatally. absent ossification of half of the sacrum (hemisacrum) may be an isolated finding or a syndromic feature. coronal and cross-sectional views will demonstrate the unilateral ossification defect, although visualization of this area is often impaired by shadowing from the iliac wings. vertebral fusion can be identified easily in longitudinal and coronal planes by demonstrating absence of the echolucent intervertebral space.

differential diagnosis

false positive diagnosis of segmentation abnormality may result from shadowing caused by nearby ossified structures. examination of the vertebral body from different angles may help to overcome this.

sonographic features

abnormal spinal curvatures

coronal and sagittal clefts

vertebral body fusion

anarchic vertebral body ossification (irregular shapes and sizes)

triangular-shaped vertebral body

hemisacrum

associated syndromes

  • arteriohepatic dysplasia (alagille syndrome)
  • caudal regression/sirenomelia sequence
  • cloacal exstrophy
  • dyssegmental dysplasia
  • fetal alcohol syndrome
  • jarcho-levin (spondylocostal dysplasia -types 1 and 11)
  • klippel-feil sequence
  • larsen
  • lethal multiple pterygium syndromes
  • murcs association
  • noonan
  • oculo-auriculo-vertebral
  • robinow
  • vater /vacterl association

references

taybi h, lachman rs in: radiology of syndromes, metabolic disorders and skeletal dysplasias. 4th ed mosby-year book inc