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

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Ellis–van Creveld syndrome

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Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus Timothy D. Howard, Alan E. Guttmacher, Wendy McKinnon, Mridula Sharma, Victor A. McKusick, Ethylin Wang Jabs The American Journal of Human Genetics Volume 61, Issue 6, Pages 1405-1412 (December 1997) DOI: 10.1086/301643 Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical photographs of affected family members. A, Proband (IV:4 in fig. 2), front and lateral view. Note the short stature, abnormal configuration of the chest, hands with nail dysplasia of the thumbs (bottom right), and postaxial polydactyly in infancy (bottom left). B, Father of the proband (III:8 in fig. 2), front and lateral view. Note the proportional stature, normal chest, and onychodystrophy. His postaxial polydactyly had been surgically removed. The American Journal of Human Genetics 1997 61, 1405-1412DOI: (10.1086/301643) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 2 Linkage- and haplotype-analysis data for the studied family with features of Weyers acrofacial dysostosis and Ellis–van Creveld syndrome. For each individual evaluated, the alleles for the genetic markers are given below the symbol; individuals without assigned alleles were not available for analysis. The proband is indicated with an arrow. The boxed areas include the alleles that are either certainly or possibly inherited from an affected parent and show the largest possible region in which the disease locus may lie. The American Journal of Human Genetics 1997 61, 1405-1412DOI: (10.1086/301643) Copyright © 1997 The American Society of Human Genetics Terms and Conditions