ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2016
Central nervous system and cervical spine abnormalities in Apert syndrome.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.Scientific reports · 2022Pooled it
- Embryodysgenesis of the Lids and Orbit.Eye (London, England) · 2026Review
- Lumbar hemivertebra associated with coronal craniosynostosis due to TCF12 mutation: an expansion of the axial skeletal phenotype.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations-Integrative Review.Genes · 2026Review
- Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.Molecular neurobiology · 2025Article
- 3D imaging reveals changes in the neurovascular architecture of the murine calvarium with aging.Bone research · 2025Article
- An early prenatal diagnosis of type III Pfeiffer syndrome: a case description.Quantitative imaging in medicine and surgery · 2024Article
- Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Differential diagnosis of syndromic craniosynostosis: a case series.Archives of gynecology and obstetrics · 2022Article
- Apert syndrome: Cranial procedures and brain malformations in a series of patients.Surgical neurology international · 2020Article
- Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2018Review
- Analysis of theBiology open · 2017Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeApert 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.
methodsRetrospective 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.
resultsNinety-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 %).
conclusionMultiple 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.
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