Abnormal Vertebral Column
Anne Kennedy, MD
DIFFERENTIAL DIAGNOSIS
Common
Spina Bifida
Segmentation and Fusion Anomalies
Less Common
Caudal Regression Sequence
VACTERL Association
Skeletal Dysplasias
Achondrogenesis
Thanatophoric Dysplasia
Rare but Important
Iniencephaly
Chiari III Malformation
ESSENTIAL INFORMATION
Key Differential Diagnosis Issues
Are all vertebral bodies present?
Take care to assess all segments systematically
Caudal regression may be quite subtle when mild
Coronal views useful to see tapering sacral segments, look for hemivertebrae
Are all posterior elements closed?
Axial views essential to avoid missing spinal dysraphism
Look for intracranial findings of Chiari II malformation if suspect neural tube defect
Is spine orientation normal?
Does orientation change with fetal movement?
Is odd position/alignment due to crowding/amniotic cavity distortion?
Is fluid volume normal?
Polyhydramnios: Skeletal dysplasias, tracheoesophageal fistula, maternal diabetes (macrosomia)
Oligohydramnios: Significant renal anomalies, maternal diabetes (microvascular disease)
Helpful Clues for Common Diagnoses
Spina Bifida
Associated with elevated maternal serum alpha fetoprotein
Associated with brain findings of Chiari II malformation
Spinal laminae parallel or divergent
Normally converge to form a “teepee”
Look for associated myelomeningocele
Interrupted skin echo
Fine membranous sac ± contained neural elements
Look for associated myeloschisis
Interrupted skin echo with rolled edges, no sac
Segmentation and Fusion Anomalies
Result from aberrant vertebral column formation
Block vertebra: Segmentation failure of two or more vertebral somites
Posterior neural arch anomalies: Dysraphism ± unilateral pedicle aplasia/hypoplasia
Partial or complete failure of formation: Vertebral aplasia, hemivertebra, butterfly vertebra
Partial duplication: Supernumerary hemivertebra
Often cause kyphosis/scoliosis
May be isolated but if found look for other malformations
Gastrointestinal (20%),
Congenital cardiac disease (10%)
Renal anomalies also described
Evaluate spinal cord carefully for associated tethering or diastematomyelia (split cord)
Check for maternal alcohol abuse/medications history (valproate)
Helpful Clues for Less Common Diagnoses
Caudal Regression Sequence
Strong association with poorly controlled maternal diabetes
Due to missing vertebra rather than abnormal vertebra
Spine looks “short”
Tapers abnormally high, not at sacral tip
Assess cervical, thoracic, lumbar, & sacral segments systematically in every fetus
Look for vertebral bodies between iliac wings on axial images
“Shield sign” describes the appearance of apposed iliac wings when sacral vertebra are absent
Lower extremities often held in fixed “Buddha” or “cross-legged tailor” position
VACTERL Association
Non-random association of anomalies involving multiple organ systems except brain
Vertebral anomalies
Anal atresia
Cardiac anomalies
Tracheoesophageal fistula
Renal anomalies
Limb (radial ray)
Three or more associated malformations required for diagnosis
Achondrogenesis
Hallmark is lack of vertebral ossification
Type Ia: Completely unossified, associated with rib but not long bone fractures
Type Ib: Pedicles may be ossified
Type II: Deficient spine mineralization
Severe micromelia
Disproportionately large head
Ossification may be normal (type II) or deficient (type I)
Small thorax with protuberant abdomen
Thanatophoric Dysplasia
Severe platyspondyly with prominent lumbar kyphosis
Associated with severe micromelia with prominent bowing but normal ossification
Telephone receiver femur in type I
Kleeblattschädel (“cloverleaf”) skull deformity in type II
Small, narrow thorax
Helpful Clues for Rare Diagnoses
Iniencephaly
Lethal open neural tube defect
High cervical location with severe shortening of cervical spine
Defect may extend to thoracic/lumbar spine (rachischisis)
Cervical vertebrae missing or fused
Associated occipital encephalocele
Fixed neck hyperextension → “stargazer” head position
Chiari III Malformation
Intracranial findings of Chiari II
High cervical ± low occipital osseous defectStay updated, free articles. Join our Telegram channel
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