Popliteal pterygium syndrome: a phenotypic and genetic analysis.
Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the ones reported here, evidence is presented that supports an autosomal dominant mode of inheritance for this syndrome. Analysis of previous familial cases showed a large degree of between and within-family variation. The segregation analysis supports the dominant hypothesis (P=0.5).
D000293:Adolescent; D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011625:Pterygium / Q000235:genetics*; D013577:Syndrome