Infant Journal
for neonatal and paediatric healthcare professionals

Neonatal Research Priority Setting Partnership: help wanted

Katie Evans
Neonatal Research Priority Setting Partnership Project Co-ordinator and Clinical Research Fellow in Neonatal Medicine at Chelsea and Westminster Hospital

Chris Gale
Academic Neonatologist and Neonatal Society Meeting Secretary

Full text available by subscription ...
The full text of this article is available to subscribers in text, and in Tablet/iPad format and as a PDF file.

Please subscribe and log in to see the full article.

bone marrow failure; pancytopenia; Shwachman-Diamond syndrome; EFL1; trio exome sequencing
Key points
  1. Standard antenatal genetic testing does not exclude a molecular diagnosis of SDS.
  2. Consider SDS in neonates with pancyto-penia and possible skeletal dysplasia.

Also published in Infant:

Hereditary folate malabsorption: effect of systemic folate supplements on myelination
Folate deficiency is a rare but important cause of macrocytic anaemia in infancy. This article describes folate deficiency in a four-month-old male infant who presented with non-specific symptoms, but was found to have megaloblastic anaemia with very low serum folate due to congenital folate malabsorption. The critical role of folic acid in brain development is highlighted.