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

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.

Download Full-text

Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus

The American Journal of Human Genetics ◽

10.1086/301643 ◽

1997 ◽

Vol 61 (6) ◽

pp. 1405-1412 ◽

Cited By ~ 30

Author(s):

Timothy D. Howard ◽

Alan E. Guttmacher ◽

Wendy McKinnon ◽

Mridula Sharma ◽

Victor A. McKusick ◽

...

Keyword(s):

Autosomal Dominant ◽

Nail Dystrophy ◽

Postaxial Polydactyly ◽

Dental Abnormalities ◽

Chromosome 4P16 ◽

Ellis Van Creveld Syndrome

Download Full-text

INHERITANCE OF HAIR CONSTRICTIONS IN MICE

Genetics ◽

10.1093/genetics/70.4.631 ◽

1972 ◽

Vol 70 (4) ◽

pp. 631-637

Author(s):

Stanley J Mann ◽

William E Straile

Keyword(s):

Genetic Analysis ◽

Structural Feature ◽

Inbred Mice ◽

Autosomal Gene ◽

Maternal Factors ◽

Hair Coat ◽

Cba Mice ◽

Respective Parent ◽

C57bl Mice ◽

Mode Of Inheritance

ABSTRACT The frequencies of multi-constricted hairs in the pelage is the same (75%) in the caudal mid-dorsum of C57BL/10 and CBA inbred mice, but there are more single-constricted hairs in C57BL mice (9.41%) than in CBA mice (0.13%). This structural feature is used as a basis for genetic analysis of the hair coat.—The frequency of single-constricted hairs (4.41%) in F1 mice is intermediate between the frequencies observed in the CBA and C57BL parent strains. Data from the F2 crosses and backcrosses to the respective parent strains indicate that the presence of numerous single-constricted hairs in the pelage is an inherited characteristic. The mode of inheritance is controlled primarily by a semi-dominant autosomal gene (single-constriction; Hct), without the involvement of maternal factors.

Download Full-text

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

10.22541/au.160839989.99464782/v1 ◽

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

Download Full-text

Novel glucokinase mutation in a boy with maturity-onset diabetes of the young

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh0810542m ◽

2008 ◽

Vol 136 (9-10) ◽

pp. 542-544 ◽

Cited By ~ 2

Author(s):

Tatjana Milenkovic ◽

Dragan Zdravkovic ◽

Katarina Mitrovic

Keyword(s):

Autosomal Dominant ◽

Molecular Level ◽

Dominant Mode ◽

Maturity Onset Diabetes ◽

Primary Defect ◽

Glucokinase Gene ◽

Onset Diabetes ◽

Heterogenous Group ◽

Glucokinase Mutation ◽

Mode Of Inheritance

INTRODUCTION Maturity-onset diabetes of the young (MODY) is a heterogenous group of disorders characterized by an early onset of insulin-independent diabetes mellitus, an autosomal dominant mode of inheritance and a primary defect in beta-cell. There are six subtypes of MODY. MODY2 and MODY3 are the most frequent. CASE OUTLINE We present a nine-year-old boy with intermittent hyperglycaemia. According to family history, the diagnosis of MODY2 was suspected. Molecular analysis revealed novel missense mutation R250c in exon 7 of glucokinase gene. Mutation (c.748 C>T) is the result of substitution of aminoacid cysteine by arginine (p.Arg250Cys). This is the first pediatric patient with MODY2 in Serbia whose diagnosis is established at molecular level. CONCLUSION Molecular diagnosis of MODY has important consequences in terms of prognosis, therapy and family screening of the disorder. Investigation of other patients with MODY2 in our country is important to establish prevalence and nature of mutations in glucokinase gene.

Download Full-text

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

Download Full-text

Ellis-van Creveld syndrome affecting siblings: A case report and review

CODS Journal of Dentistry ◽

10.5005/cods-6-1-40 ◽

2014 ◽

Vol 6 (1) ◽

pp. 40-44

Author(s):

Rajeshwari G. Annigeri ◽

V.V. Subba Reddy ◽

G.P. Mamatha ◽

Manisha Jadhav ◽

P. Poornima

Keyword(s):

Case Report ◽

Heart Defects ◽

Genetic Disorder ◽

Genetic Defect ◽

Principal Characteristics ◽

Jeune Syndrome ◽

Asphyxiating Thoracic Dysplasia ◽

Chromosome 4P16 ◽

Ellis Van Creveld Syndrome ◽

Sparse Hair

Abstract Ellis-van Creveld syndrome (EVC) is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. EVC is a rare autosomal recessive disease resulting from a genetic defect located in chromosome 4p16. The name chondroectodermal is used as it affects both the skeleton (chondro) and the skin (ectoderm). The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The patients have small stature, short limbs, fine sparse hair and hypoplastic nails. The orofacial manifestations include multiple gingivolabial musculofibrous frenule, dental anomalies like hypodontia associated with malocclusion. This entity can be diagnosed at any age, even during pregnancy. The differentiation should be made between Asphyxiating Thoracic Dysplasia (Jeune syndrome) and other orofaciodigital syndromes. A multidisciplinary approach is required to manage this condition. We are reporting a rare clinical entity of chondroectodermal dysplasia with classical signs affecting siblings who reported to the Department of Oral Medicine and Radiology with review of its literature. How to cite this article Mamatha GP, Manisha J, Rajeshwari GA, Poornima P, Subba Reddy VV. Ellis-van Creveld syndrome affecting siblings – A case report and review. CODS J Dent 2014;6;40-44

Download Full-text

Ellis Van Creveld Syndrome with Synpolydactyly, an Antenatal Diagnosis with Postnatal Correlation

Journal of Clinical Imaging Science ◽

10.4103/2156-7514.91132 ◽

2011 ◽

Vol 1 ◽

pp. 59 ◽

Cited By ~ 1

Author(s):

Nischal G Kundaragi ◽

Kishor Taori ◽

Ritesh Kumawat ◽

Jawahar Rathod ◽

Atul E Sawant

Keyword(s):

Antenatal Diagnosis ◽

Heart Diseases ◽

English Literature ◽

Dental Anomalies ◽

Atrioventricular Canal ◽

Postaxial Polydactyly ◽

Atrioventricular Canal Defect ◽

Nail Dysplasia ◽

Ellis Van Creveld Syndrome ◽

The Right

Ellis Van Creveld syndrome (EVC), also known as chondroectodermal dysplasia, presents at birth with short limbs accompanied by postaxial polydactyly, nail dysplasia, and dental anomalies. Other manifestations of EVC include atrial septum defects and other congenital heart diseases. We report a case of the EVC syndrome with postaxial polydactyly (Synpolydactyly with seven fingers on the right side and hexadactyly on the left side) and a partial atrioventricular canal defect diagnosed antenatally. This variation of EVS has not been reported in English literature till date.

Download Full-text