Late survival in Ellis–van Creveld syndrome – A case report

Mishra, Trinath Kumar; Routray, Satya Narayan; Das, Biswajit

doi:10.1016/j.ihj.2012.06.011

Cited by 7 publications

(4 citation statements)

References 9 publications

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“…Murmurs were heard but not much sound. 3,6 As the patient had developed disturbances in ectodermal and chondral structures with cardiac manifestations and polydactyly the condition was diagnosed as EVC syndrome 8 .…”

Section: Ellis Van Creveld Syndromementioning

confidence: 99%

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Achondroplasia and Ellis Van Creveld Syndrome

Ramkumar¹,

Shanmugasundaram²,

Narayanan³

2014

jemds

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Stunted growth of an individual occurs in many systemic conditions and the main cause is due to defective cartilage growth in the long bones particularly in the lower extremities. In achondroplasia and Ellis Van Creveld syndrome the endochondral ossification of long bones are affected but in Ellis Van Creveld syndrome, the stunted growth is associated with ectodermal dysplasia, polydactyly and cardiac diseases. The common feature for both achondroplasia and Ellis Van Creveld syndrome is the individual's trunk is normal but the lower extremities are short. Though there is a cartilage dysfunction in these two cases, different clinical manifestation occurs in the body and these things are recorded from two case reports of Achondroplasia and Ellis Van Creveld syndrome and submitted the clinical differences with explanation and discussion.

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Section: Ellis Van Creveld Syndromementioning

confidence: 99%

“…In Achondroplasia the growth of long bones are affected due to the defective cartilage growth in the epiphyseal end causing the main feature of rhizomelic disproportionate short stature. This skeletal dysplasia occurs 1 in 30000 3 .…”

Section: Introductionmentioning

confidence: 99%

Achondroplasia and Ellis Van Creveld Syndrome

Ramkumar¹,

Shanmugasundaram²,

Narayanan³

2014

jemds

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“…The syndrome is characterized by high mortality in early life, with 50% of deaths occurring during infancy. 3 It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence in India is not known where as prevalence of the disease varies widely in general population of 1 in 60,000 live births in the United States of America (USA) to 1 in 150,000 live births in European countries, large number of cases were seen in Amish community of USA by McKuisk in 1964.…”

Section: Introductionmentioning

confidence: 99%

Pregnancy in Ellis Van Creveld syndrome women: a rare case report

Sunanda

Aisha

2022

Int J Reprod Contracept Obstet Gynecol

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Ellis Van Creveld (EVC) syndrome also known as chondroectodermal dysplasia is a rare genetic disorder characterized by congenital heart defect, short ribs, polydactyly, dwarfism, deformed teeth and genu valgum. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence in India is not known, but the syndrome seems more common among Amish population of Pennsylvania in the United States of America (USA). Heart defects occur in about 60% of cases. Cognitive and motor development is normal. It shows autosomal recessive trait with variable expression. The patients with this syndrome rarely survive into adulthood but here we report a case of 25 years old pregnant lady with Ellis Van Creveld syndrome.

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“…Ellis-van Creveld (EVC) syndrome or dysplasia chondroectodermal dysplasia, which can be found in Online Mendelian Inheritance in Man entry number 225500, was described in 1940 by Richard W. B Ellis and Simon van Creveld as an autosomal recessive disorder caused by a genetic anomaly located on chromosome 4p16 [1][2][3]. The prevalence of EVC at birth was estimated to be seven in every 1 000 000 people, and more than 300 cases have been reported in the literature.…”

Section: Introductionmentioning

confidence: 99%

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

Guiguimdé

Agoda

Bationo³

et al. 2018

J Oral Med Oral Surg

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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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Late survival in Ellis–van Creveld syndrome – A case report

Cited by 7 publications

References 9 publications

Achondroplasia and Ellis Van Creveld Syndrome

Achondroplasia and Ellis Van Creveld Syndrome

Pregnancy in Ellis Van Creveld syndrome women: a rare case report

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

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