Tibial aplasia--VACTERL association, a new syndrome?

D Basel; J Goldblatt

doi:10.1097/00019605-200009030-00010

Tibial aplasia--VACTERL association, a new syndrome?

Clin Dysmorphol. 2000 Jul;9(3):205-8. doi: 10.1097/00019605-200009030-00010.

Authors

D Basel¹, J Goldblatt

Affiliation

¹ Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.

PMID: 10955482
DOI: 10.1097/00019605-200009030-00010

Abstract

We report on a male infant, born to nonconsanguineous parents, with a vertebral anomaly, cardiac defect, tracheo-oesophageal fistula and hypospadias (VACTERL association) together with bilateral tibial aplasia. This pattern of abnormalities appears to represent a unique syndrome.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / pathology*
Humans
Infant, Newborn
Male
Syndrome
Tibia / abnormalities*