Tibial aplasia--VACTERL association, a new syndrome?
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.
Basel
D
D
Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.
Goldblatt
J
J
D000015:Abnormalities, Multiple / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities*