An updated pediatric perspective on the Apert syndrome

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.