Ellis-van Creveld syndrome in identical twins.

Goor, Daniel A.; Rotem, Y; Friedman, Abraham; Neufeld, Henry N.

doi:10.1136/hrt.27.6.797

Cited by 20 publications

(12 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Other cases of polydactyly presented septal defects (Tunte, 1968), aortic coarctation (Veno, Bansho, and Kawashima, 1968), and truncus arteriosus (Van Praagh and Van Praagh, 1965). This syndrome seems to be related to the well-known autosomal recessive syndrome of Ellis-van Creveld, in which polydactyly, dwarfism, dysplastic nails, and abnormal teeth co-exist with CDH-usually common atrium, but also ventricular septal defect or atrioventricularis communis (Tubbs, Crevasse, and Green, 1962;Giknis, 1963;McKusick, 1964;Behar and Rachmilewitz, 1964;Goor et al, 1965;Lynch et al, 1968). …”

Section: Discussionmentioning

confidence: 99%

Genetics of Atrial Septal Defect

Cascos¹

1972

Archives of Disease in Childhood

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Genetics of Atrial Septal Defect

Cascos¹

1972

Archives of Disease in Childhood

View full text Add to dashboard Cite

“…Since many of the phenotypes seen in patients with ciliopathies can be attributed to defective Hh signaling (16), it is now well accepted that Hh signaling is essential for craniofacial development, suggesting that EVC2 could be also involved in craniofacial tissue development. To support this notion, it has been reported that EvC patients exhibit craniofacial growth and developmental phenotypes, including defective skull growth pattern such as enlarged skull, depressed nasal bridge, mandibular prognathism, skeletal class III (maxillary deficiency and mandibular prognathism), and skeletal open bite (1, 17, 18). A genome-wide association study revealed that human chromosome 4p16.1, which includes EVC and EVC2 genes, is strongly associated with mandibular prognathism (19).…”

Section: Introductionmentioning

confidence: 99%

Expression of Evc2 in craniofacial tissues and craniofacial bone defects in Evc2 knockout mouse

Badri

Zhang

Ohyama

et al. 2016

Archives of Oral Biology

View full text Add to dashboard Cite

Objective Our objectives were to determine the expression of EVC2 in craniofacial tissues and investigate the effect of Evc2 deficiency on craniofacial bones using Evc2 knockout (KO) mouse model. Design Evc2 KO mice were generated by introducing a premature stop codon followed by the Internal Ribosomal Entry Site fused to β-galactosidase (LacZ). Samples from wild-type (WT), heterozygous (Het) and homozygous Evc2 KO mice were prepared. LacZ staining and immunohistochemistry (IHC) with anti-β-galactosidase, anti-EVC2 and anti-SOX9 antibodies were performed. The craniofacial bones were stained with alcian blue and alizarin red. Results The LacZ activity in KO was mainly observed in the anterior parts of viscerocranium. The Evc2-expressing cells were identified in many cartilageous regions by IHC with anti-β-galactosidase antibody in KO and Het embryos. The endogenous EVC2 protein was observed in these areas in WT embryos. Double labeling with anti-SOX9 antibody showed that these cells were mainly chondrocytes. At adult stages, the expression of EVC2 was found in chondrocytes of nasal bones and spheno-occipital synchondrosis, and osteocytes and endothelial-like cells of the premaxilla and mandible. The skeletal double staining demonstrated that craniofacial bones, where the expression of EVC2 was observed, in KO had the morphological defects as compared to WT. Conclusion To our knowledge, our study was the first to identify the types of Evc2-expressing cells in craniofacial tissues. Consistent with the expression pattern, abnormal craniofacial bone morphology was found in the Evc2 KO mice, suggesting that EVC2 may be important during craniofacial growth and development.

show abstract

“…Ellis–van Creveld (EVC) syndrome or chondroectodermal dysplasia, a rare autosomal recessive disorder recently mapped to human chromosome 4pl6 (1), was defined in 1940 by Ellis and van Creveld (2) as a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, which may be incomplete or have a variable spectrum of clinical manifestations (3).…”

mentioning

confidence: 99%

“…Chondrodystrophy is the most common feature and affects the tubular bones (3). It is due to a defect of ossification, which is delayed in the primary centers but premature in the secondary centers, leading to short stature with progressive distal shortening of the extremities.…”

mentioning

confidence: 99%

Ellis–van Creveld Syndrome: A Report of Two Cases

Arya

Mendiratta

Sharma

et al. 2001

Pediatric Dermatology

View full text Add to dashboard Cite

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes EVC syndrome in two sisters of Indian origin, ages 8 and 6 years, the products of nonrelated, unaffected parents. The patients had chondrodysplasia of tubular bones resulting in disproportionate dwarfism, polydactyly, severely dystrophic nails, partially absent teeth, and short and bound-down upper lips with multiple frenulae. Other features noted in the girls were syndactyly and mild mitral regurgitation. All four of the classic features of EVC syndrome were present in patient 1 and three in patient 2. Additional findings were ichthyosis and plantar keratoderma in the former and absent clavicles in the latter, which have not been reported previously. The importance of prenatal diagnosis of EVC is stressed and a multidisciplinary approach for the management of these patients is highlighted.

show abstract

Ellis-van Creveld syndrome in identical twins.

Cited by 20 publications

References 18 publications

Genetics of Atrial Septal Defect

Genetics of Atrial Septal Defect

Expression of Evc2 in craniofacial tissues and craniofacial bone defects in Evc2 knockout mouse

Ellis–van Creveld Syndrome: A Report of Two Cases

Contact Info

Product

Resources

About