Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis

Area of Science:

• Pediatric Surgery
• Genetics
• Craniofacial Surgery

Background:

• Isolated Sagittal Synostosis (ISS) is a common craniosynostosis, but systemic associations are not well-documented.
• Providers need awareness of potential syndromic or systemic involvement in ISS patients.

Purpose of the Study:

• To investigate the incidence of systemic disease and syndromic diagnosis in a cohort of patients with ISS.
• To determine if onset of ISS influences systemic involvement.

Main Methods:

• Retrospective review of 377 patients diagnosed with ISS between 2007 and 2017.
• Patients categorized by ISS onset: early (<1 year) and late (>1 year).
• Analysis of patient records for congenital anomalies, systemic conditions, and molecular testing results.

Main Results:

• Systemic conditions were identified in 50% of all ISS patients (188/377).
• Late onset ISS (60%) had significantly higher systemic involvement than early onset ISS (38%) (P < 0.001).
• 13% of patients received a syndromic diagnosis (79% confirmed genetically), with 35% having CNS and 16% craniofacial anomalies.

Conclusions:

• Nearly 50% of patients diagnosed with ISS exhibit systemic involvement.
• Comprehensive pediatric and genetic evaluations, including molecular testing, are recommended for all children with ISS.