Craniofacial Microsomia: New Updates in Spinal Anomalies

Abstract

Introduction: Craniofacial microsomia (CFM) involves anomalies of the first and second pharyngeal arches, mainly of the mandible, maxilla, ears, and vertebral spine. This study aimed to identify the frequency and morphology of spinal anomalies of individuals with clinical diagnoses of CFM. In addition, the correlation between spinal anomalies and craniofacial involvement was performed. Materials and Methods: This study was a retrospective review of individuals with a clinical diagnosis of craniofacial microsomia. The inclusion criteria were a clinical diagnosis of CFM with no overlap with any other syndromes of first and second pharyngeal arches and radiograph availability in the hospital’s database. Prevalence and morphology of spinal anomalies were calculated and clinical details were recorded: types of spinal anomalies and correlations according to OMENS score. Results: The sample consisted of 46 individuals with a clinical diagnosis of CFM, 24 (52,2%) female and 22 (47,8%) male (1M:1F). Twenty-one (45,7%) had unilateral craniofacial involvement and 25 (54,3%), bilateral. Twenty-eight (60,9%) individuals presented spinal anomalies. Those with unaltered spinal morphology showed a slight preference toward OMENS scores under 5: 7 patients did, only one of which had spinal alterations (14,3%); 68,8% (22) in the group with scores 5 to 9 (n=32) and 71,4% (5) in the 10 to 15 group (n=7) did as well. Discussion and conclusions: Spinal anomalies in individuals with CFM are more common than usually reported in medical literature, mainly when associated with radial anomalies and correlate with statistical significance to facial features, mainly the OMENS score.