Category Archives: Congenital anomalies

Tip 231: tongue-tie

Tongue-tie (ankyloglossia) is a short lingual frenulum that restricts tongue protrusion and may be present in up to 30% of babies. Though most infants are asymptomatic, when severe it can interfere with latching and effective breast-feeding. Lactation support may resolve … Continue reading

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Tip 230: laryngomalacia 2

Laryngomalacia is associated with gastro-oesophageal reflux. It is twice as common in boys. Reference: Rennie & Roberton’s Textbook of Neonatology, 5th Ed, 2005. London: Churchill. Previously published: 12/03/15

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Tip 223: congenital hypothyroidism 2

About 0.2% of infants having the national newborn blood spot test have a high TSH requiring recall. External link: UK National Screening Committee (2012). Congenital hypothyroidism is suspected. Reference: Rennie & Roberton’s Textbook of Neonatology, 5th Ed, 2005. London: Churchill. Previously published: 17/02/15

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Tip 221: congenital hypothyroidism

The usual mode of presentation is by the finding of an elevated TSH detected on the Newborn Screening Programme, as neonates are usually subclinically affected. It affects 1 in 3000 live births. If clinical features are present, they include: dry skin, … Continue reading

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Tip 213: anorectal malformations 2

Anorectal malformations can be associated with other congenital anomalies such as : CHARGE (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth, Genital or urinary abnormalities, Ear abnormalities) VACTERL (Vertebral anomalies, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal anomalies, Limb defects). Reference: Levitt, M. A., & Peña, A. (2007). Anorectal … Continue reading

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Tip 212: anorectal malformations

These are a wide spectrum of disorders affecting 1 in 5000 live births. The more proximal the lesion, the more complex the surgical input required. Reference: Levitt, M. A., & Peña, A. (2007). Anorectal malformations. Orphanet J Rare Dis, 2(33), 1-13. Previously published: … Continue reading

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Tip 210: neural tube defects

Despite preconceptual maternal folate supplementation, neural tube defects remain one of the most common congenital CNS defects at 12 per 10,000 live births. External link: BINOCAR (2014), Congenital anomaly statistics 2012 England and Wales, British Isles Network of Congenital Anomaly … Continue reading

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