Holt- Oram syndrome: a case report

Abstract

Background: Holt-Oram syndrome (HOS) is mainly an autosomal dominant condition characterized by upperlimb abnormalities and in 85 – 95% of cases, congenital cardiac malformations. It may occur as a result of new mutations in 40% of cases. Methods: We reviewed the case notes of a neonate. Results: We present a case of HOS in a one week old male with an absent radius but no congenital cardiac abnormality born to apparently normal parents. Conclusion: HOS is a rare disease and highlights the need for parental counselling. 

Key words: Holt-Oram, Congenital Malformations, Phocomelia, Oligodactyly,  High Med Res J 2013;13:53-55