rss
BMJ Case Reports 2013; doi:10.1136/bcr-2013-008807
  • CASE REPORT

Down syndrome masked by Marfan syndrome in a neonate

  1. Satish Adwani
  1. Department of Paediatrics, Oxford University Hospital NHS Trust, Oxford, UK
  1. Correspondence to Dr Naveen Shettihalli, naveen.shettihalli{at}ouh.nhs.uk

Summary

A male neonate with maternally inherited Marfan syndrome was also diagnosed with Down syndrome at 3 weeks of age. To our knowledge this is the first described case in the literature of the co-occurrence of Down syndrome and Marfan syndrome in a neonate. The diagnosis of Down syndrome was delayed and we hypothesise that Marfan syndrome had masked the usual phenotypic features of Down syndrome. The phenotype of this child is intriguing and has lead to speculation of the possible interaction of the two syndromes.

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article