A Case Report of Frontometaphyseal Dysplasia

ABSTRACT

Frontometaphyseal dysplasia is an uncommon genetic syndrome affecting bone and connective tissue. This condition is characterized by the prominence of supraorbital ridges, hyperostosis of the skull, mandibular hypoplasia and malocclusion with antegonial notching, underdeveloped paranasal flaring of the long bone, and a widened iliac wing. Frontometaphyseal dysplasia has an X-linked dominant trait. Clinical manifestations are more severe in males and have extreme variability in females. We present an 11-year-old boy who had frontometaphyseal dysplasia with disfigured face due to bilaterally urinary tract malformation and chronic urinary tract infection. To improve facial appearance, his prominent supraorbital ridges were contoured by ostectomy and burring through bicoronal incision. Urologic operation was performed simultaneously. Histologically, resected bony specimen revealed bony tissue with normal trabecular pattern suggesting exostotic bone. The patient healed without any postoperative complications and he and his parents were satisfied with his final facial morphology.