Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings

Gene ◽  
2012 ◽  
Vol 499 (1) ◽  
pp. 223-225 ◽  
Author(s):  
Milena Peraita-Ezcurra ◽  
Mónica Martínez-García ◽  
Víctor L. Ruiz-Pérez ◽  
María Eugenia Sánchez-Gutiérrez ◽  
María Fenollar-Cortés ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Ellis Van Creveld Syndrome

scholarly journals Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from Turkey

2020 ◽  
Author(s):  
ÖZDEN ÖZTÜRK ◽  
haydar BAĞIŞ ◽  
Semih Bolu ◽  
Muhammer Özgür Çevik
Keyword(s):  
Genetic Analysis ◽  
Homozygous Mutation ◽  
Cardiac Abnormality ◽  
Turkish Child ◽  
Ellis Van Creveld Syndrome

Here we report a Turkish child with Ellis-van Creveld syndrome whose presentation was short strature, hypodontia, narrow thorax, dysplastic nails, cardiac abnormality and polydactyly. Genetic analysis revealed novel homozygous mutation in the EVC2 gene (c.3533_3546del). Further research is needed to elucidate the pathophysiological course

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

2012 ◽  
Vol 2 ◽  
pp. 18 ◽  
Author(s):  
Devi C. Shetty ◽  
Harkanwal P. Singh ◽  
Prince Kumar ◽  
Chanchal Verma
Keyword(s):  
Genetic Analysis ◽  
Skeletal Dysplasias ◽  
Postaxial Polydactyly ◽  
Heterogenous Group ◽  
Chromosome 4P16 ◽  
Ellis Van Creveld Syndrome ◽  
Mode Of Inheritance

Skeletal dysplasias are a heterogenous group of disorders combining abnormalities in the skull and other skeletal bones. Weyers acrofacial dysostosis also known as Weyers acrodental dysostosis was first described in 1952, by Weyers, as a postaxial polydactyly, which had features distinct from, yet some in common with the Ellis-van Creveld Syndrome (EvC). Both the syndromes have been mapped to the same chromosome, 4p16. 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.

Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency

1997 ◽  
Vol 61 (6) ◽  
pp. 491-496 ◽  
Author(s):  
K. HIDAKA ◽  
I. IUCHI ◽  
M. TOMITA ◽  
Y. WATANABE ◽  
Y. MINATOGAWA ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Japanese Patient

An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes

Pathology ◽  
2003 ◽  
Vol 35 (2) ◽  
pp. 141-144 ◽  
Author(s):  
Hiroya Kato ◽  
Sukenari Koyabu ◽  
Shigenori Aoki ◽  
Takuya Tamai ◽  
Masahiro Sugawa ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gallbladder Cancer ◽  
Cerebrotendinous Xanthomatosis ◽  
Autopsy Case ◽  
P53 Genes

Genetic analysis of non-toxic liver fibrosis in a congenic mouse intercross

2016 ◽  
Vol 54 (08) ◽  
Author(s):  
R Hall ◽  
K Hochrath ◽  
F Grünhage ◽  
F Lammert
Keyword(s):  
Liver Fibrosis ◽  
Genetic Analysis ◽  
Congenic Mouse

Genetic analysis of congenital myasthenic syndromes (CMS)

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
A Abicht ◽  
JS Müller ◽  
SK Baumeister ◽  
U Schara ◽  
A Hübner ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes
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