Abstract
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.
MeSH terms
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Adult
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Atrophy
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Braces
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Cervical Vertebrae / abnormalities*
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Cervical Vertebrae / pathology
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Chromosome Aberrations*
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Female
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Genes, Dominant / genetics*
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High Mobility Group Proteins / genetics
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Humans
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Image Processing, Computer-Assisted
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Imaging, Three-Dimensional
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Infant, Newborn
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Joint Instability / diagnosis*
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Joint Instability / genetics*
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Joint Instability / therapy
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Kyphosis / diagnosis*
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Kyphosis / genetics*
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Kyphosis / therapy
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Magnetic Resonance Imaging
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Male
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Mutation
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Orthotic Devices
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Osteochondrodysplasias / diagnosis*
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Osteochondrodysplasias / genetics*
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Osteochondrodysplasias / therapy
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Pregnancy
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SOX9 Transcription Factor
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Scoliosis / diagnosis
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Scoliosis / genetics
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Scoliosis / therapy
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Spinal Cord / pathology
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Spinal Cord Injuries / diagnosis
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Spinal Cord Injuries / etiology
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Thanatophoric Dysplasia / diagnosis*
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Thanatophoric Dysplasia / genetics*
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Thanatophoric Dysplasia / therapy
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Tomography, X-Ray Computed
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Transcription Factors / genetics
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Ultrasonography, Prenatal
Substances
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High Mobility Group Proteins
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SOX9 Transcription Factor
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SOX9 protein, human
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Transcription Factors