Ellis-van Creveld syndrome and the Amish

@article{McKusick2000EllisvanCS,
  title={Ellis-van Creveld syndrome and the Amish},
  author={V. McKusick},
  journal={Nature Genetics},
  year={2000},
  volume={24},
  pages={203-204}
}
  • V. McKusick
  • Published 2000
  • Biology, Medicine
  • 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.
TLDR
A classical case of a seven-year-old boy with Ellis Van Creveld syndrome presented with discrete clinical findings is presented. Expand
Ellis‐van Creveld syndrome: Report of a case and recurrent variant
TLDR
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. Expand
Ellis Van Creveld Syndrome
TLDR
A case with shortening of limbs and polydactyly is described, a rare autosomal recessive disorder whose minimal diagnostic criteria include postaxial polydACTyly of the hands, short limb dwarfism and dysplastic finger nails and teeth. Expand
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
TLDR
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. Expand
Ellis-van Creveld Syndrome
TLDR
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. Expand
Ellis-van Creveld syndrome: A rare clinical entity
TLDR
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. Expand
Chondroectodermal Dysplasia (Ellis-Van Creveld Syndrome): A case report
TLDR
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. Expand
Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis
TLDR
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. Expand
Ellis–van Creveld syndrome with facial dysmorphic features in an Egyptian child
TLDR
A patient with the typical features of the syndrome but with facial dysmorphic features (upward slant of eyes, megalocornea and high forehead), for the first time in the literature are reported. Expand
Ellis-Van Creveld syndrome: Report of two cases
TLDR
This article attempts to highlight on two female cases of EVC syndrome who reported to the authors' institution where rare dental fi ndings and skeletal features were diagnosed along with a review of the literature. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 11 REFERENCES
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
TLDR
It is suggested that EvC and Weyers acrodental dysostosis are allelic conditions, and a new gene, encoding a 992–amino-acid protein, that is mutated in individuals with EvC is identified. Expand
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis
TLDR
The CHH gene is mapped by linkage analysis with 5 markers to chromosome 9 and no heterogeneity was observed in 14 Finnish families, nor was there evidence of reduced penetrance. Expand
A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis
The association of the four following congenital abnormalities-ectodermal dysplasia affecting the hair, teeth and nails; polydactyly; chondro-dysplasia; and congenital morbus cordis-has been observedExpand
The human gene mutation database.
TLDR
Being both comprehensive and fully integrated into the existing bioinformatics structures relevant to human genetics, HGMD has established itself as the central core database of inherited human gene mutations. Expand
Amish Society (Johns
  • 1993
Selected Papers Assembled, with Commentary (ed
  • McKusick, V.A.) 135–139
  • 1978
Cold Spring Harbor Symp
  • Quant . Biol .
  • 1964
THE DISTRIBUTION OF CERTAIN GENES IN THE OLD ORDER AMISH.
...
1
2
...