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

A. Raas-Rothschild*, A. Nir, Z. Ergaz, J. Bar Ziv, A. J.J.T. Rein

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)361-364
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume84
Issue number4
DOIs
StatePublished - 4 Jun 1999
Externally publishedYes

Keywords

  • Autosomal recessive
  • Bifid femur
  • Gollop-Wolfgang complex
  • Tetralogy of Fallot
  • Tibial agenesis

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