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An updated pediatric perspective on the Apert syndrome
1Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
Insights
Apert syndrome is a genetic disorder characterized by megalencephaly and distinctive skull abnormalities. Early surgical intervention can improve skull shape but may not impact cognitive outcomes.
Area of Science:
- Pediatric Genetics
- Clinical Dysmorphology
- Neurodevelopmental Disorders
Background:
- Apert syndrome presents with craniosynostosis, specifically premature fusion of coronal sutures, leading to characteristic skull deformities.
- Patients exhibit megalencephaly with a disproportionately high cranium, impacting growth patterns from infancy through adulthood.
- Associated anomalies in the central nervous system, cardiovascular, and genitourinary systems are common.
Purpose of the Study:
- To provide a clinically relevant pediatric perspective on Apert syndrome based on extensive case experience.
- To detail the spectrum of clinical manifestations, growth patterns, and associated anomalies in Apert syndrome.
- To review the impact of surgical interventions on craniofacial development and potential effects on mentation.
Main Methods:
- Review of clinical data and research experience from 136 cases of Apert syndrome.
- Analysis of growth patterns, neuroimaging findings, and associated medical conditions.
- Evaluation of the effects of early surgical management of coronal sutures and frontal bone.
Main Results:
- Megalencephaly and a high cranium are characteristic, with growth slowing significantly after infancy.
- Central nervous system abnormalities include malformations of the corpus callosum, limbic structures, and white matter hypoplasia.
- Cardiovascular and genitourinary anomalies occur in approximately 10% of cases; airway compromise, limb defects, and other findings are also reviewed.
Conclusions:
- Apert syndrome involves complex craniofacial and systemic manifestations requiring multidisciplinary management.
- While surgical correction of skull deformities can improve aesthetics, its effect on cognitive function remains an area for further study.
- Comprehensive evaluation and management are crucial for addressing the diverse clinical challenges presented by Apert syndrome.
Abstract:
This review of the Apert syndrome, based on our research experience with 136 cases, provides a clinically relevant pediatric perspective. The brain is megalencephalic, resulting in a disproportionately high cranium and a mean birth length and weight above the 50th percentile. The growth pattern in childhood consists of a slowing of linear growth so that most values fall between the 5th and 50th percentiles. From adolescence to adulthood, slowing becomes more pronounced. Central nervous system abnormalities may occur in some cases, including malformations of the corpus callosum and limbic structures, gyral abnormalities, hypoplastic white matter, and heterotopic gray matter. Distortion ventriculomegaly is found because of the large brain in a misshapen skull. Progressive hydrocephalus is uncommon. Intelligence in patients with the Apert syndrome varies from normality to mental deficiency. Early release of the coronal suture and advancement and reshaping of the frontal bone reduce further dysmorphic and unwanted growth changes in the skull, but probably do not affect mentation. Associated cardiovascular and genitourinary anomalies occur in 10% and 9.6% of cases, respectively. Other important findings reviewed include upper- and lower-airway compromise, calvarial development, cervical vertebral anomalies, limb defects, ocular and otologic manifestations, and dermatologic characteristics.