Craniofacial Microsomia: New Updates in Spinal Anomalies

Area of Science:

• Medical Genetics
• Developmental Biology
• Orthopedics

Background:

• Craniofacial microsomia (CFM) is characterized by anomalies affecting the first and second pharyngeal arches, impacting structures like the mandible, maxilla, ears, and spine.
• The prevalence and specific characteristics of spinal anomalies in CFM patients require further elucidation.

Purpose of the Study:

• To determine the frequency and morphology of spinal anomalies in individuals diagnosed with craniofacial microsomia.
• To investigate the correlation between spinal anomalies and the extent of craniofacial involvement.

Main Methods:

• A retrospective review was conducted on patients with a clinical diagnosis of CFM.
• Inclusion criteria involved a confirmed CFM diagnosis without overlap with other pharyngeal arch syndromes and available radiographic data.
• Spinal anomaly prevalence, morphology, and correlations with the OMENS score were analyzed.

Main Results:

• The study included 46 individuals (52.2% female, 47.8% male) with CFM; 45.7% had unilateral and 54.3% bilateral craniofacial involvement.
• A significant proportion, 60.9%, of individuals presented with spinal anomalies.
• Spinal anomalies showed a correlation with craniofacial severity, particularly noted with higher OMENS scores.

Conclusions:

• Spinal anomalies are more prevalent in CFM cases than previously reported in the literature.
• The presence of radial anomalies alongside CFM increases the likelihood of spinal abnormalities.
• A statistically significant correlation exists between spinal anomalies and facial features, especially as quantified by the OMENS score.