title: Congenital cervical spinal fusion: a study in Apert syndrome.
abstract: The occurrence and pattern of cervical spinal fusions have been assessed in 59 cases of Apert syndrome (acrocephalosyndactyly type 1). Radiological evidence of vertebral fusion either in progress or completed was observed in 37 (63%) of the cases. Fusion was limited to a single vertebral level in 18 cases and multiple levels, involving either contiguous or skipped levels in the remaining 19+ C3-4 and C5-6 were the levels most commonly involved. This distribution of fusions is different from other instances of congenital spinal fusion including those associated with other varieties of craniosynostosis. There was a significant association between age at the time of radiograph and the presence of spinal fusions (p < 0.001, Wilcoxon 2-sample test). Analysis of sequential radiographs in 17 patients revealed evidence of progressive fusion in 10. Small size of the vertebral body and reduced intervertebral disc space were indicators of subsequent bony fusion. The fusions seen in Apert syndrome thus appear to be progressive, occurring at the site of subtle congenital vertebral anomalies and may not be apparent as a congenital feature. The implications for the aetiology of so-called "congenital' spinal fusions in Apert syndrome and other situations are discussed.
authors.affiliation: Craniofacial Unit, Hospital for Sick Children, London, UK.
authors.forename: D N
authors.initials: DN
authors.lastname: Thompson
authors.forename: S F
authors.initials: SF
authors.lastname: Slaney
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
authors.forename: D
authors.initials: D
authors.lastname: Shaw
authors.forename: B M
authors.initials: BM
authors.lastname: Jones
authors.forename: R D
authors.initials: RD
authors.lastname: Hayward
mesh_terms: D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging*; D000293:Adolescent; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009460:Neurologic Examination; D011859:Radiography