Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach

Abstract

Ellis-van Creveld syndrome (EVC) is a very rare genetic disorder that affects various tissues of ectodermal and mesodermal origin; patients with EVC present with typical oral deficiencies. The affected individuals are quite young at the time of oral evaluation. It is, therefore, important that these individuals are diagnosed and receive dental treatment at an early age for their physiologic and psychosocial well-being. Albeit there are numerous articles penned on the EVC, the treatise from an oral perspective is inadequate, covering only oral exhibitions and the preventive treatments. This article reviews the literature and serves as the first disquisition for oral rehabilitation of an EVC patient utilizing surgical, orthodontic, restorative, and prosthodontic management.

Ellis-Van Creveld syndrome - A Systematic Review and Case Report

“…It is really hard to distinguish between Asphyxiating thoracic dystrophy and Ellis-Van Creveld syndrome by looking at the radiographs of long bones and hands and pelvis as they both look same. But it can be differentiated by presence of renal failure associated with hypertension, which is the classic feature of Asphyxiating thoracic dystrophy [19], [24] . Before proceeding to the treatment protocol, a proper clinical and radiographic examination is mandatory for best clinical decision.…”

“…Surgical correction is advised for multiple frenula, labiogingival adhesions, ankyloglossia and other soft tissue abnormalities [36] . Regular counselling for parents and children is mandatory to treat psychological trauma caused by multiple dental visits and compromised aesthetics [24] .…”

Ellis-van Creveld Syndrome

“…7,7 Medically, certain cardiovascular problems could be detected in about 50% of patients, and chest x-rays, electrocardiography, and electrocardiograms had to be recommended to analyze possible malformations and to offer a treatment plan. 8 In addition to the above-mentioned features, the patient with Ellisvan Creveld syndrome exhibited some dental features such as hypodontia and supernumerary teeth (Figure 3). 1 Dental panoramic tomography was an important aid in diagnosis dentally (Figure 4).…”

Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models

“…Abnormal craniofacial morphology may not be apparent at birth but includes a trend towards mandibular prognathism, maxillary deficiency, skeletal open bite, and prominent frontal bossing that gives patients a concave-shaped lateral profile. While not at an inherently increased risk of caries, the loss of oral function often requires extensive prosthodontic rehabilitation (e.g., dentures and implants) starting from a young age [ 37 , 38 ]. Depending on the severity of the craniofacial phenotype, patients with EVC may also benefit from treatment by speech–language pathologists.…”