Ellis-van Creveld syndrome and the Amish

@article{McKusick2000EllisvanCS,
  title={Ellis-van Creveld syndrome and the Amish},
  author={Victor A. McKusick},
  journal={Nature Genetics},
  year={2000},
  volume={24},
  pages={203-204}
}
  • V. McKusick
  • Published 1 March 2000
  • History
  • Nature Genetics
Genetic studies often involve the cooperation of large numbers of affected persons and their families. The discovery of the gene that, when mutated, causes a form of dwarfism (Ellis-van Creveld syndrome) has been accelerated through a collaborative effort between geneticists and the Old Order Amish, of Lancaster County, Pennsylvania. 

Ellis Van Creveld syndrome.

A classical case of a seven-year-old boy with Ellis Van Creveld syndrome presented with discrete clinical findings is presented.

Ellis‐van Creveld syndrome: Report of a case and recurrent variant

The prenatal findings and genetic analysis of a terminated pregnancy affected by severe thoracic and skeletal dysplasia are reported and the diagnosis of Ellis‐van Creveld syndrome is confirmed.

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.

Ellis-van Creveld Syndrome

People with Ellis-van Creveld syndrome have particularly short forearms and lower legs and a narrow chest with short ribs, and are born with a heart defect.

Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome

A case of a newborn with a compound heterozygous variant comprising NM_147127.5: c.1991dup:[p.Lys665Glufs*10] in the EVC2 gene and a novel large deletion involving exon 1 in EVC and exons 1–7 inEVC2 is reported.

Ellis-van Creveld syndrome: A rare clinical entity

A rare case of EVC syndrome is presented in a 10-year-old girl along with the review of literature to present the presence of multiple orodental findings makes this syndrome important for dentists.

Ellis‑van Creveld syndrome: A rare clinical entity CASE REPORT

A rare case of EVC syndrome is presented in a 10-year-old girl along with the review of literature to present the presence of multiple orodental findings makes this syndrome important for dentists.

Chondroectodermal Dysplasia (Ellis-Van Creveld Syndrome): A case report

A case of Ellis-van Creveld syndrome is reported in a thirteen month old female child presented with history of recurrent lower respiratory tract infections and was diagnosed incidentally as a cases of Ellis –van Crevesld syndrome.

Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis

The cases reported here highlight the overlapping features of both syndromes, which are dissimilar in mode of inheritance and phenotypic severity, emphasizing the need for genetic analysis, to categorize these conditions.
...

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