Ellis-van Creveld syndrome: systemic and oral findings

Abstract

AIMS: To present a case of Ellis-van Creveld syndrome (EvC) highlighting the systemic and oral manifestations and expand the phenotypic spectrum of the disorder. CASE DESCRIPTION: A 4-year-old female, with an initial diagnosis of EvC, was referred for dental treatment. The patient had hexadactyly of the hands, thorax disproportionate to the shortened limbs, hypopigmented and dry skin, short stature, a wide gap between the 1st and 2nd toes of the right foot and markedly dystrophic toenails. The oral manifestations were upper labial frenulum causing large vestibule and absence of diastema, labiogingival frenulum, enamel hypoplasia, conical teeth, claw-like cusp, oligodontia, microdontia and malocclusion. CONCLUSIONS: The EvC is one among several syndromes with oral manifestations that demands the participation of a multidisciplinary team to better patient assessing, treatment and monitoring. Dentists have the leading role in the control and treatment of the oral manifestations.