Cranial Morphology Associated With Syndromic Craniosynostosis: A Potential Detection of Abnormality in Patient's Cranial Growth Using Angular Statistics

Abstract

Introduction Apert, Crouzon, and Pfeiffer syndromes are common genetic syndromes related to syndromic craniosynostosis (SC), whereby it is a congenital defect that occurs when the cranial growth is distorted. Identifying cranial angles associated with these 3 syndromes may assist the surgical team to focus on a specific cranial part during the intervention planning, thus optimizing surgical outcomes and reducing potential morbidity. Objective The aim of this study is to identify the cranial angles, which are associated with Apert, Crouzon, and Pfeiffer syndromes. Methods The cranial computed tomography scan images of 17 patients with SC and 22 control groups aged 0 to 12 years who were treated in the University Malaya Medical Centre were obtained, while 12 angular measurements were attained using the Mimics software. The angular data were then divided into 2 groups (patients aged 0 to 24 months and >24 months). This work proposes a 95% confidence interval (CI) for angular mean to detect the abnormality in patient's cranial growth for the SC syndromes. Results The 95% CI of angular mean for the control group was calculated and used as an indicator to confirm the abnormality in patient's cranial growth that is associated with the 3 syndromes. The results showed that there are different cranial angles associated with these 3 syndromes. Conclusions All cranial angles of the patients with these syndromes lie outside the 95% CI of angular mean of control group, indicating the reliability of the proposed CI in the identification of abnormality in the patient's cranial growth.

Can Craniosynostosis be Diagnosed on Physical Examination? A Retrospective Review

“…3 Craniosynostosis is a diagnostic criterion for many different genetic syndromes, most commonly Muenke, Crouzon, Apert, and Pfieffer syndromes. 4,5 Of the non-syndromic deformities, single suture synostosis of the sagittal and metopic sutures are the most common. 6 All cases of craniosynostosis with the exception of mild metopic craniosynostosis without hypertelorism warrant corrective surgery for both functional and appearance concerns.…”

“…In contrast, multiple centers have reported that an increasing number of pediatric patients are referred to craniofacial centers by primary care physicians although CT scans were negative for craniosynostosis. 3,5,6 In this study, we aim to assess whether routine CT imaging is warranted in the diagnoses and surgical planning of single suture craniosynostosis. We will identify the number of patients referred by primary care centers to the Divisions of Pediatric Neurosurgery and Pediatrics Plastic Surgery at UTHealth Houston for assessment of suspected single suture nonsyndromic craniosynostosis.…”

“…Craniosynostosis has an incidence of ~1/2000 births and is divided into syndromic (40%) and non-syndromic (60%) cases 3 . Craniosynostosis is a diagnostic criterion for many different genetic syndromes, most commonly Muenke, Crouzon, Apert, and Pfieffer syndromes 4,5 . Of the non-syndromic deformities, single suture synostosis of the sagittal and metopic sutures are the most common 6 .…”

“…These groups argue that CT imaging subjects patients to unnecessary radiation, anesthesia, and other related costs. In contrast, multiple centers have reported that an increasing number of pediatric patients are referred to craniofacial centers by primary care physicians although CT scans were negative for craniosynostosis 3,5,6 …”