Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report

Varela, Margarita; Ramos, Carlos Martínez

doi:10.1093/ejo/18.4.313

Cited by 18 publications

(13 citation statements)

References 9 publications

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“…Despite the reports on the function of EVC and EVC2 at the molecular level and the wide spectrum of clinical presentations in EvC patients, the existing documentations of the craniofacial manifestations of EvC syndrome are quite inconsistent. For example, the enlarged skull, depressed nasal bridge, mandibular prognathism characteristic of skeletal class III growth, and skeletal open bite are reported in several cases of EvC patients (Ellis and van Creveld, 1940;Goor et al, 1965;Susami et al, 1999), while other reports indicated that facial development is normal (Varela and Ramos, 1996;Hanemann et al, 2010). These inconsistencies are possibly due to a large variation in the patients' genetic background and/ or the limited information on the craniofacial abnormalities in EvC patients.…”

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confidence: 99%

The Role of Ellis‐Van Creveld 2(EVC2) in Mice During Cranial Bone Development

Kwon

Louie

Kulkarni

et al. 2017

The Anatomical Record

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EvC syndrome is a type of autosomal-recessive chondrodysplasia. Previous case studies in patients suggest abnormal craniofacial development, in addition to dwarfism and tooth abnormalities. To investigate how craniofacial development is affected in EvC patients, surface models were generated from micro-CT scans of control mice, Evc2 global mutant mice and Evc2 neural crest-specific mutant mice. The anatomic landmarks were placed on the surface model to assess the morphological abnormalities in the Evc2 mutants. Through analyzing the linear and angular measurements between landmarks, we identified a smaller overall skull, shorter nasal bone, shorter frontal bone, and shorter cranial base in the Evc2 global mutants. By comparing neural crest-specific Evc2 mutants with control mice, we demonstrated that the abnormalities within the mid-facial regions are not accounted for by the Evc2 mutation within these regions. Additionally, we also identified disproportionate length to width ratios in the Evc2 mutants at all levels from anterior to posterior of the skull. Overall, this study demonstrates a more comprehensive analysis on the craniofacial morphological abnormalities in EvC syndrome and provides the developmental insight to appreciate the impact of Evc2 mutation within the neural crest cells on multiple aspects of skull deformities. Anat Rec, 2017. © 2017 Wiley Periodicals, Inc. Anat Rec, 301:46-55, 2018. © 2017 Wiley Periodicals, Inc.

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confidence: 99%

The Role of Ellis‐Van Creveld 2(EVC2) in Mice During Cranial Bone Development

Kwon

Louie

Kulkarni

et al. 2017

The Anatomical Record

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“…It does not show racial and gender predilection. [1,11,12] Prenatal abnormalities would be expected after the 18 th week of gestation that includes narrow thorax, marked shortening of long bones, hands and feet hexadactyly and cardiac defect. [13] The cardinal features after birth are increasing severity from the proximal to distal portions of the limbs with disproportionate small stature, shortening of middle and distal phalanges, hands aff ected with polydactyly, nails and teeth dysplasia, congenital heart malformations.…”

Section: Discussionmentioning

confidence: 99%

“…The clinical variability of oral EVC syndrome which is attributed to genetic and environmental phenotype modifying eff ects could be due to genetic factor on teeth and other oral structure development that occurs during a relatively long period. [9,12] Confi rmatory diagnosis is based on clinical manifestations of the syndrome, skeletal radiographic survey. DNA mapping is most reliable molecular diagnostic methods by direct sequencing of EVC and EVC2 genes, [13] however gene mapping was not attempted in our patients.…”

Section: Discussionmentioning

confidence: 99%

Ellis-Van Creveld syndrome: Report of two cases

Chanemougananda¹,

Jesija²,

Bojan³

et al. 2014

IJMDCR

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Ellis-van Creveld (EVC) syndrome is an ectodermal and chondral dysplasia as three embryonic layers are involved. It is a form of achondroplastic dwarfi sm resulting from an autosomal recessive disorder. It is most prevalent in the Amish population occurring in 1/5,000 live births and the birth prevalence in non-Amish population are estimated to be 7/1,000,000. Multiple malformations of the ectoderm and mesoderm, including short ribs, polydactyly, growth retardation and congenital cardiac anomalies are noted. This rare condition is inherited due to gene mutations of the EVC1 and EVC2, located on chromosome 4p16 in head to head confi guration. The presence of multiple orodental fi ndings such as conical teeth, hypodontia, malocclusion and hypoplasia of the enamel makes this syndrome important for a dentist. This article attempts to highlight on two female cases of EVC syndrome who reported to our institution where rare dental fi ndings and skeletal features were diagnosed along with a review of the literature.

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“…1 It is a syndrome affecting the Amish population of Pennsylvania in USA with the prevalence rate of 1/5,000 live birth. In nonAmish population, the birth prevalence is 7/1,000,000.…”

Section: Introductionmentioning

confidence: 99%