Congenital cervical instability in a patient with camptomelic dysplasia.
BACKGROUND
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.


METHODS
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.


RESULTS
He subsequently developed a complete spinal cord injury at the kyphotic level. This underscores the grim prognosis associated with neonatal cervical spinal instability.
Division of Neurological Surgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, AZ 85003, USA.
Gregory P
GP
Lekovic
Harold L
HL
Rekate
Curtis A
CA
Dickman
Margaret
M
Pearson
D000328:Adult; D001284:Atrophy; D001915:Braces; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000473:pathology; D002869:Chromosome Aberrations; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D007091:Image Processing, Computer-Assisted; D021621:Imaging, Three-Dimensional; D007231:Infant, Newborn; D007593:Joint Instability / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D007738:Kyphosis / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009989:Orthotic Devices; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D011247:Pregnancy; D055758:SOX9 Transcription Factor; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D013116:Spinal Cord / Q000473:pathology; D013119:Spinal Cord Injuries / Q000175:diagnosis / Q000209:etiology; D013796:Thanatophoric Dysplasia / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics; D016216:Ultrasonography, Prenatal
D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors