Ellis-van Creveld Syndrome: Craniofacial Morphology and Multidisciplinary Treatment

Abstract

Objective

The craniofacial morphology and multidisciplinary treatment of a patient with Ellis-van Creveld Syndrome are presented.

Patient

The patient presented is female. Her treatment began at the age of 10 years 6 months. She exhibited small stature with acromelic shortening of the extremities, postaxial syndactyly, and dysplastic nails. In the oral region, hyperplastic frena, absent anterior teeth, and small barrel-shaped teeth were noted.

Setting and intervention

The patient was treated at the University Hospital, Faculty of Dentistry, of the Tokyo Medical and Dental University. The treatment was divided into three stages: growth observation during which the patient wore acrylic plates with artificial anterior teeth; surgical-orthodontic treatment with saggital split ramus osteotomy; and prosthodontic treatment with removable partial dentures.

Main outcome measures

Cephalometric analyses were performed to evaluate the changes in craniofacial morphology with growth during treatment.

Results

Characteristic craniofacial morphology included a small posterior cranial base, small maxilla, and a large mandible with an increased gonial angle. Maxillo-mandibular relation was skeletal class III, and skeletal open bite was found. The skeletal class III relationship was progressive with growth. The patient was satisfied by the results of the multidisciplinary treatment.

Conclusion

The craniofacial morphology of the patient demonstrated disturbed growth of the cartilage bones. An acceptable result was obtained through combined surgical-orthodontic-prosthodontic treatment.