Genetics of Chondroectodermal Dysplasia

PEDIATRICS ◽  
1958 ◽  
Vol 22 (4) ◽  
pp. 777-777
Author(s):  
JULIUS D. METRAKOS ◽  
F. CLARKE FRASER
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Ectodermal Dysplasia ◽  
Case Histories ◽  
Statistical Probability ◽  
Ellis Van Creveld Syndrome

We read with great interest the two excellent case histories of chondroectodermal dysplasia (Ellis-van Creveld syndrome) that were reported recently by Smith and Hand (Pediatrics, 21:298, 1958). We must take issue, however, with the conclusion that "The statistical probability of siblings having the complete tetrad of defects is rather remote...." This conclusion appears to be based on the assumptions that the four members of the tetrad (chondrodysplasia, ectodermal dysplasia, polydactylism and congenital heart disease) are caused by four different genes, and that the characteristic association of abnormalities to form a syndrome is due to linkage.

CHONDROECTODERMAL DYSPLASIA (ELLIS—VAN CREVELD SYNDROME) WITH A COMPLEX CARDIAC MALFORMATION

PEDIATRICS ◽  
1961 ◽  
Vol 28 (2) ◽  
pp. 285-292
Author(s):  
George S. Husson ◽  
Paul Parkman
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Venous Return ◽  
Ectodermal Dysplasia ◽  
Superior Vena ◽  
Vena Cava ◽  
Left Superior Vena Cava ◽  
Single Atrium ◽  
Ellis Van Creveld Syndrome

A 4-month-old girl with chondroectodermal dysplasia (dwarfism, bimanual polydactyly and ectodermal dysplasia) (Ellisvan Creveld syndrome) and congenital heart disease, consisting of anamalous pulmonary venous return, single atrium and a persistent left superior vena cava, is described. A review of the literature concerning chondroectodermal dysplasia reveals an incidence of congenital heart disease in more than 50% of patients.

scholarly journals Case histories of neonates with congenital heart disease.

1981 ◽  
Vol 45 (2) ◽  
pp. 215-220
Author(s):  
MASUYOSHI NAGANUMA ◽  
MINORU TSUNEMOTO ◽  
TATSUO NAITO
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Case Histories

scholarly journals Ellis Van-Creveld Syndrome in an Ethnic Group in Nepal: Case Report with Review of Literature

2016 ◽  
Vol 36 (2) ◽  
pp. 188-192
Author(s):  
Eva Gauchan ◽  
Prakash Sharma
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Ethnic Group ◽  
Congenital Heart ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Review Of Literature ◽  
Dental Abnormalities ◽  
Ellis Van Creveld Syndrome

Ellis van-Creveld syndrome is a rare autosomal recessive disorder characterized by acromesomelic dwarfism, postaxial polydactyly, oro-dental abnormalities and congenital heart disease. We are reporting three cases in two families of the same ethnic group from Western Nepal. Genetic testing should be done in this population in order to identify the mutation in the gene causing the syndrome.J Nepal Paediatr Soc 2016;36(2):188-192.

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