Tailing growth, neonatal jaundice and anaemia.

At medical school, there is a phrase to help us remember that common things are common: 'If you hear hooves think horses, not zebras'. Our case demonstrates how a rare diagnosis can present with common features of growth restriction, jaundice and anaemia.

⚡ This is an original paraphrased summary — not copied from the abstract. Full paper available at the source link below.

• 1 However, zebras do exist, and from time to time in general paediatric and neonatal practice, we will encounter these rare diagnoses, more of which we can now accurately diagnose through the ever-expanding field of genomics.
• 2 Our case demonstrates how a rare diagnosis can present with common features of growth restriction, jaundice and anaemia.
• 3 Paediatricians therefore require a high index of suspicion and increasing knowledge of the logistics of genetic testing.

Understanding this could lead to better treatments, improved diagnostics, or a deeper grasp of how the human body works — benefiting patient care globally.

This summary is based on publicly available metadata and abstract. For the full research paper, visit the original source: