Purpose: Individuals with Simpson-Golabi-Behmel Syndrome have distinct facial abnormalities that commonly require surgical correction. To date, specific features of this facial dysmorphism have not been described. We will report the cephalometric abnormalities associated with Simpson-Golabi-Behmel Syndrome.

Methods and Materials: Standard cephalometric measurements of 8 children with genetic confirmation of Simpson-Golabi-Behmel were statistically compared to those of their unaffected siblings and published normative values.

Summary of Results: Patients with Simpson-Golabi-Behmel Syndrome were found to have significantly smaller SNA and SNB angles (75.8° vs 81.5°, and 73.5° vs 78.6 respectively), excessive lower facial height (78.4mm vs 68.7mm), and more obtuse facial plane angle (100.7° vs 97.6°).

Conclusions: Patients with Simpson-Golabi-Behmel Syndrome have an array of specific cephalometric abnormalities unique to the genetic syndrome. These craniofacial abnormalities are statistically different to those of unaffected siblings and published normative values.