title: Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?
abstract: We present a kindred of brother, sister, and cousin with ectrodactyly and hypoplasia of the tibia. The parents of the cousin are consanguineous; the parents of the sibs originate from the same small Algerian village. We also report on a boy with tibial defect and split hands and feet with consanguineous parents. These observations are further hints for an autosomal recessive type of ectrodactyly with aplasia (hypoplasia) of the tibia, as was favoured by some authors. However, review of the present and reported cases does not demonstrate any clinical differences between the seemingly recessive and the dominant types. Statistical analysis of 17 families with affected sibs and normal parents showed a 1:3.1 ratio of affected:unaffected by the proband method. Despite consanguinity among nine sets of parents, this ratio, and approximately 30 additionally reported families generally are in favour of autosomal dominance with reduced penetrance.
authors.affiliation: Institute of Human Genetics, Düsseldorf, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Majewski
authors.forename: T
authors.initials: T
authors.lastname: Goecke
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
mesh_terms: D000462:Algeria / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005190:Family; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D005858:Germany; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D013576:Syndactyly; D013977:Tibia / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities*