Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series.
OBJECTIVE
The objective of this case series was to determine the oral, dental and craniofacial features of patients with EvC syndrome.


METHODS
Eight patients with EvC syndrome were enrolled. A complete family history, pedigree analysis, detailed medical history were collected. Findings of clinical examination, including craniofacial and orodental manifestations, and radiological investigations were thoroughly studied.


RESULTS
All eight patients had characteristic face, hypertrophic frenulum, conical and peg-shaped teeth, hypodontia of deciduous and/or permanent teeth and also skeletal dysplasia, small chest, short stature and hypoplastic nails. Additionally dysmorphic filtrum, serrated appearance of gingiva, diastema, enamel hypoplasia, microdontia, taurodontism, single rooted permanent molar, delayed eruption and high caries rate were observed with varying degrees. Cephalometric evaluation revealed skeletal Class III growth pattern in four subjects and Class II growth pattern in one subject.


CONCLUSIONS
Evaluation of craniofacial and orodental anomalies of EvC syndrome is required for accurate differential diagnosis from other congenital syndromes.
Istanbul University, Faculty of Dentistry, Department of Pedodontics, Istanbul, Turkey.
Elif Bahar
EB
Tuna
Istanbul University, Faculty of Dentistry, Department of Pedodontics, Istanbul, Turkey.
Mine
M
Koruyucu
Istanbul University, Faculty of Dentistry, Department of Oral Surgery, Istanbul, Turkey. Electronic address: ekurklu@istanbul.edu.tr.
Esma
E
Kürklü
Istanbul University, Faculty of Dentistry, Department of Orthodontics, Istanbul, Turkey.
Muhsin
M
Çifter
Istanbul University, Faculty of Dentistry, Department of Pedodontics, Istanbul, Turkey.
Koray
K
Gençay
Istanbul University, Faculty of Dentistry, Department of Pedodontics, Istanbul, Turkey.
Figen
F
Seymen
Istanbul University, Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul, Turkey.
Beyhan
B
Tüysüz
D000293:Adolescent; D002648:Child; D003731:Dental Caries / Q000150:complications; D003786:Dental Pulp Cavity / Q000002:abnormalities; D004613:Ellis-Van Creveld Syndrome / Q000150:complications; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D018640:Stomatognathic System Abnormalities; D014071:Tooth Abnormalities; D014421:Turkey; D055815:Young Adult
Chondroectodermal dysplasia; Craniofacial; Ellis–van Creveld; Orodental manifestations; Skeletal anomalies