Central nervous system and cervical spine abnormalities in Apert syndrome
- 425 Downloads
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.
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.
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 %).
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.
KeywordsApert syndrome Abnormalities CNS Cervical spine Craniosynostosis
- 2.Apert E (1906) De l’acrocephalosyndactylie. Bull Med Soc Hop Paris 23:1310–1330Google Scholar
- 3.Cohen MM Jr, Kreiborg S, Lammer EJ, et al. (1992) Birth prevalence study of the Apert syndrome. Am J Med Genet 42:655–659Google Scholar
- 4.Kreiborg S, Cohen MM Jr (1992) The oral manifestations of Apert syndrome. J Craniofac Genet Dev Biol 12:41–48Google Scholar
- 8.Cohen MM Jr, Kreiborg S (1996) A clinical study of the craniofacial features in Apert syndrome. Int J Oral Maxillofac Surg 25:45–53Google Scholar
- 9.Cohen MM Jr, Kreiborg S (1994) Unusual cranial aspects of the Apert syndrome. J Craniofac Genet Dev Biol 14:48–56Google Scholar
- 11.Cohen MM Jr, Kreiborg S (1990) The central nervous system in the Apert syndrome. Am J Med Genet 35:36–45Google Scholar
- 31.Kwon MK, Yu JY, Kim MR, Lee KH, Lee HR, Kim KN (2001) A case of Apert’s syndrome with encephalocele and hypogenesis of corpus callosum. Korean J Pediatr 44:832–836Google Scholar
- 32.Kreiborg S, Barr M Jr, Cohen MM Jr (1992) Cervical spine in the Apert syndrome. Am J Med Genet 43:704–708Google Scholar