Oral manifestations in Ellis-van Creveld syndrome: a case report

Introduction: Ellis-van Creveld (EVC) syndrome is an uncommon genetic disease that can be diagnosed at any age. Observation: A case of EVC syndrome was reported in a young 3-year-old female patient presenting chondroectodermal dysplasia, polydactyly, congenital heart defects, damage to the oral mucosa and numerous dental alterations (number, form and structure). Oral management consists of teaching oral hygiene and the prophylactic filling of dental cracks. Discussion: EVC is an autosomal recessive disease. Its diagnosis is only based on clinical features and genetic studies. Conclusion: Dentists should be aware of this syndrome to avoid a late diagnosis and to facilitate a multidisciplinary management.

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Ellis van Creveld syndrome: An unusual presentation at birth

Indian Journal of Case Reports ◽

10.32677/ijcr.v7i12.3230 ◽

2022 ◽

pp. 538-540

Author(s):

Vidisha Singh ◽

Alka Agrawal ◽

Kailash Chandra Aggarwal

Keyword(s):

Autosomal Recessive ◽

Indian Population ◽

Neonatal Period ◽

Autosomal Recessive Disease ◽

Heart Defects ◽

Consanguineous Marriage ◽

The World ◽

Single Atrium ◽

Ellis Van Creveld Syndrome ◽

Rare Autosomal Recessive Disease

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

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Focused Strategies for Defining the Genetic Architecture of Congenital Heart Defects

Genes ◽

10.3390/genes12060827 ◽

2021 ◽

Vol 12 (6) ◽

pp. 827

Author(s):

Lisa J. Martin ◽

D Woodrow Benson

Keyword(s):

Genetic Variation ◽

Congenital Heart Defects ◽

Heart Development ◽

Genetic Architecture ◽

Congenital Heart ◽

Rare Variants ◽

Heart Defects ◽

Genetic Origin ◽

Genetic Studies ◽

The Ideal

Congenital heart defects (CHD) are malformations present at birth that occur during heart development. Increasing evidence supports a genetic origin of CHD, but in the process important challenges have been identified. This review begins with information about CHD and the importance of detailed phenotyping of study subjects. To facilitate appropriate genetic study design, we review DNA structure, genetic variation in the human genome and tools to identify the genetic variation of interest. Analytic approaches powered for both common and rare variants are assessed. While the ideal outcome of genetic studies is to identify variants that have a causal role, a more realistic goal for genetic analytics is to identify variants in specific genes that influence the occurrence of a phenotype and which provide keys to open biologic doors that inform how the genetic variants modulate heart development. It has never been truer that good genetic studies start with good planning. Continued progress in unraveling the genetic underpinnings of CHD will require multidisciplinary collaboration between geneticists, quantitative scientists, clinicians, and developmental biologists.

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Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

Prenatal Diagnosis ◽

10.1002/pd.4490 ◽

2014 ◽

Vol 35 (1) ◽

pp. 97-99 ◽

Cited By ~ 5

Author(s):

Valentina D'Ambrosio ◽

Carmela Votino ◽

Teresa Cos ◽

Sebastien Boulanger ◽

Annelies Dheedene ◽

...

Keyword(s):

Autosomal Recessive ◽

Autosomal Recessive Disease ◽

Cgh Array ◽

Ellis Van Creveld Syndrome

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

Journal of Developmental Biology ◽

10.3390/jdb8040025 ◽

2020 ◽

Vol 8 (4) ◽

pp. 25

Author(s):

Ke’ale W. Louie ◽

Yuji Mishina ◽

Honghao Zhang

Keyword(s):

Limb Development ◽

Autosomal Recessive ◽

Autosomal Recessive Disease ◽

Human Case ◽

Craniofacial Anomalies ◽

Human Species ◽

Critical Insight ◽

Ellis Van Creveld Syndrome ◽

Cellular Pathogenesis ◽

Insight Into

Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies. With two of three patients first noted as being offspring of consanguineous marriage, this autosomal recessive disease results from mutations in one of two causative genes: EVC or EVC2/LIMBIN. The recent identification and manipulation of genetic homologs in animals has deepened our understanding beyond human case studies and provided critical insight into disease pathogenesis. This review highlights the utility of animal-based studies of EVC by summarizing: (1) molecular biology of EVC and EVC2/LIMBIN, (2) human disease signs, (3) dysplastic limb development, (4) craniofacial anomalies, (5) tooth anomalies, (6) tracheal cartilage abnormalities, and (7) EVC-like disorders in non-human species.

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First case of COVID-19 infection in a adult patient with Ellis-van Creveld Syndrome

10.21203/rs.3.rs-237427/v1 ◽

2021 ◽

Author(s):

Isabelle Piazza ◽

Paolo Ferrero

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Heart Defects ◽

Autosomal Recessive Disorder ◽

Endocardial Cushions ◽

Specific Therapy ◽

Case Presentation ◽

Septal Defects ◽

First Case ◽

Ellis Van Creveld Syndrome

Abstract Background: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and heart defects (mostly endocardial cushions and atrial septal defects). Case presentation: We describe the first case of COVID-19 infection in a 24-years-old girl, diagnosed with EVC syndrome. The patient suffered only from a mild illness, she remained stable with normal saturation without need of neither respiratory support nor specific therapy and she was rapidly discharged.Conclusions: This case appraises the pathophiosiologic interplay between different specific prognostic variable in a syndromic patient with congenital heart disease and COVID-19.

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Chondroectodermal dysplasia (Ellis-van Creveld syndrome)

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20213325 ◽

2021 ◽

Vol 8 (9) ◽

pp. 1599

Author(s):

Om Prakash Singh ◽

Vikas Kumar ◽

Rahul Kumar

Keyword(s):

Autosomal Recessive ◽

Endochondral Ossification ◽

Heart Defects ◽

Rare Condition ◽

Causative Factor ◽

Recessive Trait ◽

Variable Expression ◽

Sporadic Cases ◽

Chromosome 4P16 ◽

Ellis Van Creveld Syndrome

Ellis-van Creveld syndrome (EVC) is a very rare mesenchymal- ectodermal dysplasia. This was first described in 1940 by Richard W. B. Ellis and Simon van Creveld.This rare condition is inherited as an autosomal recessive trait with variable expression. It is also known as mesoectodermal dysplasia or chondroectodermal dysplasia. The main features of this syndrome are short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. It was found to be more common among the Amish. But sporadic cases have been reported from all over the world including India. The generalized dysplasia of endochondral ossification is because of in a novel gene on chromosome 4p16. Mutations of the EVC1 and EVC2 genes, located in head to head configuration on chromosome 4p16 have been identified as a causative factor

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Genetic testing for pulmonary stenosis

The EuroBiotech Journal ◽

10.2478/ebtj-2018-0039 ◽

2018 ◽

Vol 2 (s1) ◽

pp. 58-60

Author(s):

Yeltay Rakhmanov ◽

Paolo Enrico Maltese ◽

Carla Marinelli ◽

Tommaso Beccari ◽

Munis Dundar ◽

...

Keyword(s):

Congenital Heart ◽

Autosomal Recessive ◽

Autosomal Dominant ◽

Pulmonary Valve ◽

Heart Defects ◽

Pulmonary Stenosis ◽

Autosomal Recessive Inheritance ◽

Live Births ◽

Gene Test ◽

Pulmonary Arterial

Abstract Pulmonary stenosis (PS) is a congenital pulmonary valve malformation. It can be classified as valvular, subvalvular or supravalvular. Isolated forms of PS are rare. PS is associated with the development of massive pulmonary arterial dilatation. Patients with PS have a high consanguinity rate and the disorder is highly familial, which is why knowing the genetic aetiology of this defect is important. Prevalence is estimated at about 4/10,000 live births, and incidence at about 10% of all children with congenital heart defects. PS has prevalently autosomal dominant and rarely autosomal recessive inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

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Ellis–van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases

Pediatric Cardiology ◽

10.1007/s00246-011-0006-9 ◽

2011 ◽

Vol 32 (7) ◽

pp. 977-982 ◽

Cited By ~ 30

Author(s):

Christine B. Hills ◽

Lazaros Kochilas ◽

Lisa A. Schimmenti ◽

James H. Moller

Keyword(s):

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Ellis Van Creveld Syndrome

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Sacral Meningocele with Conotruncal Heart Defects: A Possible Autosomal Recessive Trait

PEDIATRICS ◽

10.1542/peds.74.3.395 ◽

1984 ◽

Vol 74 (3) ◽

pp. 395-398

Author(s):

Boris G. Kousseff

Keyword(s):

Congenital Heart Defects ◽

Neural Tube ◽

Neural Tube Defects ◽

Neural Tube Defect ◽

Congenital Heart ◽

Autosomal Recessive ◽

Heart Defects ◽

Recurrence Risk ◽

Type I ◽

Conotruncal Heart Defects

Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period due to conotruncal heart defects (transposition of the great vessels and truncus arteriosus type I, respectively). An in utero diagnosis of open neural tube defect was made on the third sibling; persistent slightly elevated α-fetoprotein levels in amniotic fluid and increased number of rapidly adhering cells in short term amniotic cell culture were found. The unique combination of sacral meningocele and conotruncal malformations in this sibship suggests a new autosomal recessive condition. It also emphasizes the heterogeneity of both the open neural tube defects and congenital heart defects. Awareness of this variant is necessary in regard to the 25% recurrence risk instead of the 3% to 5% recurrence risk given for both congenital heart defects and open neural tube defects as isolated anomalies. The difficult prenatal diagnosis for the small neural tube defect should be appreciated.

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