Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2006
Congenital cervical instability in a patient with camptomelic dysplasia.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Lekovic Gregory P, Rekate Harold L, Dickman Curtis A, Pearson Margaret
Аннотация
INTRODUCTION: Camptomelic dysplasia (CD) is a rare autosomal dominant skeletal dysplasia classically characterized by bent bones of the extremities, tracheobronchial narrowing, thoracic kyphoscoliosis, and various degrees of phenotypic sex reversal. Most patients die of complications in infancy, although long-term survivors have been reported.
CASE REPORT: We report a case of CD complicated by incomplete ossification of the cervical vertebral pedicles, resulting in congenital cervical instability and kyphosis. Closed reduction was performed, and the patient was fitted with a customized cervical orthosis.
FINDING: He subsequently developed a complete spinal cord injury at the kyphotic level. This underscores the grim prognosis associated with neonatal cervical spinal instability.
CASE REPORT: We report a case of CD complicated by incomplete ossification of the cervical vertebral pedicles, resulting in congenital cervical instability and kyphosis. Closed reduction was performed, and the patient was fitted with a customized cervical orthosis.
FINDING: He subsequently developed a complete spinal cord injury at the kyphotic level. This underscores the grim prognosis associated with neonatal cervical spinal instability.
Предметные рубрики MeSH
AdultAtrophyBracesCervical VertebraeChromosome AberrationsFemaleGenes, DominantHigh Mobility Group ProteinsHumansImage Processing, Computer-AssistedImaging, Three-DimensionalInfant, NewbornJoint InstabilityKyphosisMagnetic Resonance ImagingMaleMutationOrthotic DevicesOsteochondrodysplasiasPregnancySOX9 Transcription FactorScoliosisSpinal CordSpinal Cord InjuriesThanatophoric DysplasiaTomography, X-Ray ComputedTranscription FactorsUltrasonography, Prenatal