Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex associated with congenital heart malformations and additional skeletal abnormalities

Am J Med Genet. 1999 Jun 4;84(4):361-4.

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.

Publication types

  • Case Reports

MeSH terms

  • Femur / abnormalities
  • Femur / diagnostic imaging
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Radiography
  • Tibia / abnormalities*
  • Tibia / diagnostic imaging