title: Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities.
abstract: We report on a child with bifid femur, absent tibiae, hypoplastic hallux, bilateral club feet, congenital heart defects, and segmentation anomalies of the spine and ribs. Parents are consanguineous, from a region where other consanguineous families with similarly affected individuals have been reported. Clinical and genetic controversies of the tibial aplasia-ectrodactyly syndrome/Gollop-Wolfgang complex are discussed.
authors.affiliation: The Roza and David Orzen Human Genetics Clinic, Department of Human Genetics, Jerusalem, Israel. annick@hadassah.org.il
authors.forename: A
authors.initials: A
authors.lastname: Raas-Rothschild
authors.forename: A
authors.initials: A
authors.lastname: Nir
authors.forename: Z
authors.initials: Z
authors.lastname: Ergaz
authors.forename: J
authors.initials: J
authors.lastname: Bar Ziv
authors.forename: A J
authors.initials: AJ
authors.lastname: Rein
mesh_terms: D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging