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
katie.evans7@nhs.net

Chris Gale
Academic Neonatologist and Neonatal Society Meeting Secretary

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Keywords
genetics; syndrome; craniosynostosis; diagnostic difficulty; referral process; Apert syndrome
Key points
  1. Due to the importance of early multidisciplinary input, we suggest all infants who are born with complex syndactyly of the hands and feet are referred for genetic analysis and craniofacial input.
  2. Clinicians should be mindful of how seemingly inappropriate referrals are communicated to parents and the effects this could have on the patient journey.

Also published in Infant:

VOLUME 16/ISSUE 4, JULY 2020
A neonate with congenital nephrotic syndrome
A male infant who was born in poor condition exhibited a persistently raised creatinine level over the first 14 days of life but showed no neurological signs of a significant hypoxic insult. A diagnosis of Finnish-type congenital nephrotic syndrome was eventually made by genetic testing. For neonates presenting with unusual or rare underlying pathologies there may be a period of time in which their signs and symptoms are attributed to a more common pathology. This case report illustrates that alternative more unusual diagnoses must be considered and explored when symptoms and results do not follow an expected course.

Read more...