title: Central nervous system and cervical spine abnormalities in Apert syndrome.
abstract: OBJECTIVE
  Apert syndrome characterized by acrocephalosyndactyly is a rare autosomal dominant congenital malformation with a prevalence of 1/65,000 births. With an extensive range of phenotypic and developmental manifestations, its management requires a multidisciplinary approach. A variety of craniofacial, central nervous system (CNS), and cervical spine abnormalities have been reported in these patients. This study aimed to determine the incidence of these CNS abnormalities in our case series.
  
  
  METHODS
  Retrospective review of Australian Craniofacial Unit (ACFU) database for Apert patients was performed. Data collected that included demographics, place of origin, age at presentation, imaging performed, and images were reviewed and recorded. Where available, developmental data was also recorded.
  
  
  RESULTS
  Ninety-four patients seen and managed at the ACFU had their CNS and cervical spine abnormalities documented. The main CNS abnormalities were prominent convolutional markings (67 %), ventriculomegaly (48 %), crowded foramen magnum (36 %), deficient septum pellucidum (13 %), and corpus callosum agenesis in 11 %. Major C-spine findings were present in 50.8 % of patients and included fusion of posterior elements of C5/C6 (50 %) and C3/4 (27 %). Multilevel fusion was seen in 20 %. Other abnormalities were C1 spina bifida occulta (7 %) and atlanto-axial subluxation (7 %).
  
  
  CONCLUSIONS
  Multiple CNS and cervical spine (c-spine) abnormalities are common in Apert syndrome. The significance of these abnormalities remains largely unknown. Further research is needed to better understand the impact of these findings on growth, development, and treatment outcomes.
authors: Australian Craniofacial Unit, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia, 5006, Australia. omar.breik@gmail.com.
authors: Omar
authors: O
authors: Breik
authors: Department of Neurosurgery, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia, 5006, Australia.
authors: Antony
authors: A
authors: Mahindu
authors: Australian Craniofacial Unit, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia, 5006, Australia.
authors: Mark H
authors: MH
authors: Moore
authors: Department of Neurosurgery, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia, 5006, Australia.
authors: Cindy J
authors: CJ
authors: Molloy
authors: Department of Neurosurgery, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia, 5006, Australia.
authors: Stephen
authors: S
authors: Santoreneos
authors: Australian Craniofacial Unit, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia, 5006, Australia.
authors: David J
authors: DJ
authors: David
mesh_terms: D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging*; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000000981:diagnostic imaging / Q000453:epidemiology*; D014057:Tomography, X-Ray Computed
keywords: Abnormalities; Apert syndrome; CNS; Cervical spine; Craniosynostosis