The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome.
Ellis-van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, is a rare autosomal recessive disorder. It is characterized by a variable spectrum of clinical findings, and the most common tetrad is chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. Among the oral findings, number anomalies, peg-shaped teeth, and alterations in soft tissues are noteworthy. The aim of this paper is to report a case in which the diagnosis of EVC was possible only with the oral findings of a dentist and to relate the dental treatment performed. A 2-year-old girl was brought for dental care due to a lack of teeth. Her condition was initially diagnosed as thanatophoric dysplasia by her pediatrician. After evaluation of the oral manifestations, the dentist referred her to a geneticist, with the suggestion of EVC. The dental report, together with the systemic manifestations, allowed the geneticist to confirm the EVC diagnosis. The necessary dental procedures were performed, and the patient, now age 5, is still monitored by a multidisciplinary team.
Department of Pediatric Dentistry and Orthodontics, School of Dentistry, Federal University of Rio de Janeiro, Brazil.
Rafael Lima
RL
Pedro
Lucia Helena Raymundo
LH
Andrade
Lucianne Cople
LC
Maia
D002675:Child, Preschool; D004613:Ellis-Van Creveld Syndrome / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007742:Labial Frenum / Q000002:abnormalities; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000209:etiology*