TMJ morphology and function in a patient with Klippel-Trenaunay syndrome. Case report

Klippel-Trenaunay syndrome is a rare congenital mesodermal disturbance of uncertain etiology in variable expression. The classic manifestation is the triad of congenital mesodermal abnormalities. Clinically a diversity of phenotypes with subjacent malformations may be encountered. The deviations of the mesioblastic germ layer affecting angioblastic, lymphoblastic and osteoblastic structures, may give rise to malformations either alone or in an unlimited diversity of associations. While this syndrome may be diagnosed by chance in the course of ultrasonic scanning during pregnancy, it is normally diagnosed during infancy or early childhood. Evaluation and carefully coordinated medical treatment are important in minimizing morbidity and relieving multiple complaints. The aim of our investigation was to evaluate and correlate the clinical, functional, radiographic and MRI findings in a patient suffering from this syndrome. We present a 13-year-old male patient suffering from extreme facial asymmetry in association with hypertrophy of the complete right side of the body. In spite of pronounced functional and morphologic asymmetry, no signs of degenerative joint disease were identified by radiography or MRI. Since temporomandibular joint dysfunction and facial asymmetry can result in irreversible degenerative joint disease, close follow-up monitoring is indispensable if joint damage is to be prevented.