Category Archives: Congenital anomalies

Tip 148: meconium ileus

Meconium ileus is due to obstruction of the terminal ileum with thick, viscid meconium. It has an incidence of 1: 1,000 – 2,000 live births. 80 – 90% of neonates with meconium ileus will have cystic fibrosis (usually the first … Continue reading

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Tip 129: cleft lip and palate 2

The UK incidence of cleft lip and palate is 1 in 700 live births. Cleft lip is twice as common on the left-side than the right, but no-one knows why. Cleft lip (+/- palate) is twice as common in boys. … Continue reading

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Tip 128: fetal alcohol syndrome

A diagnosis of FAS requires the presence of all three of the following: All three facial abnormalities (smooth philtrum, thin vermillion border, small palpebral fissures); Growth deficit; CNS abnormality (structural, neurological, functional, or combination thereof). Confirmed antenatal alcohol use strengths … Continue reading

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Tip 127: urea cycle disorders

Urea cycle disorders usually present in the neonatal period with vomiting, then progressive encephalopathy (lethargy, seizures, unconsciousness). They have hyperammonaemia in the absence of acidosis. Reference: Rennie & Roberton’s Textbook of Neonatology, 5th Ed, 2012. London: Churchill.

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Tip 120: cryptorchidism

The prevalence of neonatal cryptorchidism in the UK is approximately 6%. All infants with bilateral undescended testes on routine examination, should be seen by a paediatrician within 24h and investigated if not palpable. References: Acerini, C. L., Miles, H. L., Dunger, D. … Continue reading

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Tip 115: indications for ECMO

Conditions which may require ECMO (extracorporeal membrane oxygenation) in the neonatal period include: Respiratory distress Syndrome (RDS) Meconium Aspiration Syndrome (MAS) Persistent Pulmonary Hypertension of the Newborn (PPHN) Sepsis, including pneumonia Congenital diaphragmatic hernia (CDH) Survival to home / discharge … Continue reading

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Tip 98: gastroschisis

Compared to infants with simple gastroschisis (intact, uncompromised, continuous bowel), those with complex gastroschisis (bowel perforation, necrosis, or atresia): took longer to reach full enteral feeding; required a longer duration of parenteral nutrition; required a longer stay in hospital; were more likely to … Continue reading

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