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  • Myelomeningocele
  • Spina bifida cystica
  • Myelodysplasia
  • Spinal dysraphism
  • Meningocele
  • Myelocele
  • Meningomyelocele
  • Spina bifida occulta
  • Spina bifida aperta

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  • Q01 Encephalocele
  • Q01.0 Frontal encephalocele
  • Q01.1 Nasofrontal encephalocele
  • Q01.2 Occipital encephalocele
  • Q01.8 Encephalocele of other sites
  • Q01.9 Encephalocele, unspecified
  • Q05 Spina bifida
  • Q05.0 Cervical spina bifida with hydrocephalus
  • Q05.1 Thoracic spina bifida with hydrocephalus
  • Q05.2 Lumbar spina bifida with hydrocephalus
  • Q05.3 Sacral spina bifida with hydrocephalus
  • Q05.4 Unspecified spina bifida with hydrocephalus
  • Q05.5 Cervical spina bifida without hydrocephalus
  • Q05.6 Thoracic spina bifida without hydrocephalus
  • Q05.7 Lumbar spina bifida without hydrocephalus
  • Q05.8 Sacral spina bifida without hydrocephalus
  • Q05.9 Spina bifida, unspecified
  • Q07.01 Arnold Chiari malformation
  • Q07.3 Arnold Chiari syndrome with spina bifida and hydrocephalus
  • Q76.0 Spina bifida occulta

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Description

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  • Group of disorders involving failure of closure in the caudal end of the spinal column in utero
  • Lipomenigocele: fatty tissue mass without typical neurologic involvement or hydrocephalus
  • Anencephaly: failure of closure of caudal end of neural tube, incompatible with life
  • Occipital meningocele: meningeal sac at the occipital level
  • Encephalocele: meningeal sac containing cerebral tissue
  • Spina bifida occulta: mildest defect characterized by dimple in skin and/or tuft of hair, asymptomatic
  • Meningocele: meningeal sac filled with cerebrospinal fluid2
  • Meningomyelocele: severe defect characterized by meningeal sac that contains a portion of the spinal cord
  • Spina bifida aperta: rare, most severe type of defect that contains neural plate and rectum in addition to spinal cord

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Essentials of Diagnosis

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General Considerations

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  • Extent of neural involvement ranges from anencephaly, sacral agenesis, meningocele, or myelomeningocele

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Demographics

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  • Probability of occurrence in siblings 1 to 2%3
  • Probability of occurrence in offspring 5%3
  • Meningomyelocele accounts for 94% of all spina bifida occurrences.4
  • Incidence 1:1000 live births
  • Irish and Celtic families at increased risk (4.5:1000 live births)
  • Japanese families at lowest risk (0.3:1000 live births)

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Signs and Symptoms

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  • Open lesion on spinal column
  • Skin-covered cephalocele
  • Hydrocephalus
  • Muscle weakness and/or paralysis in lower extremities
  • Sensory deficits in lower extremities
  • Talipes equinovarus (clubfoot)
  • Latex allergy
  • Visual perceptual deficits
  • Cognitive deficits
  • Speech delay
  • Signs and symptoms of tethered cord syndrome
    • Progressive scoliosis
    • Hypertonia in ...

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