Cranioplasty in Frontometaphyseal Dysplasia

ABSTRACT

Frontometaphyseal dysplasia is a rare genetic syndrome first described by Gorlin and Cohen in 1969. This disease affects the skeletal system and connective tissue, and could be characterized by hyperostosis of the skull, prominence of supraorbital ridges, additional skeletal and extraskeletal abnormalities. It is believed that the condition is an X-linked dominant trait with severe manifextations in males and extreme variability in females. We described a case of 15-year-old boy manifested a pronounced supraorbital ridge associated with exorbitism. He also had bilateral progressive hearing deficit, thoracic spine scoliosis, chest wall deformity, bilateral maxillary sinusitis and both 5th finger arachnodactyly. The patient underwent a fronto-temporo-orbital cranioplasty through a coronal incision. The frontal bone including supraorbital region, orbital lateral rim and temporal bone were extensively contoured with burr. And then, burring of the medial aspect of lateral orbital wall was made to increase both orbital volume for correction of exorbitism. Postoperative results show well corrected prominent supraorbital ridge, hyperostosis of frontotemporal bone and exorbitism. The patient was satisfied with the improved appearance. No recurrence occurred during the 6 months of follow-up period. We report this case as it shows esthetically good result without any complication.