Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2013 Mar 11:2013:bcr2013008807.
doi: 10.1136/bcr-2013-008807.

Down syndrome masked by Marfan syndrome in a neonate

Katie Eayrs  1 , Naveen Shettihalli, Satish Adwani
Affiliations
Case Reports

Down syndrome masked by Marfan syndrome in a neonate

Katie Eayrs et al. BMJ Case Rep. .

Abstract

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Chest x-ray showing an elevated left hemidiaphragm.
Figure 1
Figure 1
CT showing the right diaphragmatic hernia with the right lobe of the liver herniating into the thoracic cavity (see arrow).
See this image and copyright information in PMC

References

    1. Silversides CK, Kiess M, Beauchesne L, et al. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndrome. Can J Cardiol 2010;26:e80–97 - PMC - PubMed
    1. Faivre L, Masurel-Paulet A, Collod-Béroud G, et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 2009;123:391–8 - PubMed
    1. Hennekam RC. Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A 2005;139:1. - PubMed
    1. Vis JC, van Engelen K, Timmermans J, et al. Marfan syndrome masked by Down syndrome? Neth Heart J 2009;17:345–8 - PMC - PubMed
    1. Bonnet D, Saygili A, Bonhoeffer P, et al. Atrio-ventricular valve dysplasia in 22 newborn infants. Int J Cardiol 1997;59:113–18 - PubMed

Publication types