Congenital cervical instability in a patient with camptomelic dysplasia.
Childs Nerv Syst
; 22(9): 1212-4, 2006 Sep.
Article
in En
| MEDLINE
| ID: mdl-16555077
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteochondrodysplasias
/
Thanatophoric Dysplasia
/
Cervical Vertebrae
/
Chromosome Aberrations
/
Genes, Dominant
/
Joint Instability
/
Kyphosis
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Language:
En
Journal:
Childs Nerv Syst
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2006
Type:
Article
Affiliation country:
United States