Paediatrics: Normal variations and minor abnormalities

2021-03-09 12:00 AM

Vernix: normal ‘cheesy’ white substance on the skin at birth.

Normal variations and minor abnormalities

Skin

  • Vernix: normal ‘cheesy’ white substance on the skin at birth.
  • Peripheral cyanosis: normal in the first few days after birth.
  • Post-mature skin: dry peeling skin, prone to cracking, common in post-mature babies. Resolves, but topical emollients often beneficial.

Head

  • Skull moulding: overriding skull bones with palpable ridges are part of moulding and are harmless. Resolves within 2–3 days.
  • Pre-auricular pits, skin tags, or accessory auricles: usually isolated, but can be associated with hearing loss or other abnormalities. Test hearing and consider surgical referral for cosmetic reasons.
  • Caput succedaneum, chignon, and cephalhaematoma:.

Eyes

  • Blocked lacrimal duct leads to the recurrent sticky eye; responds to regular eye toilet until ducts open. This may persist for months, but only consider surgery if >12mths. If purulent then secondary bacterial conjunctivitis is likely. Take swab for M, C&S (including swab for chlamydia). Treat with antibiotic eye drops.
  • Subconjunctival haemorrhage: associated with precipitate deliveries or cord around the neck. Harmless and resolves within a few weeks.

Mouth

  • Epstein’s pearls: self-resolving white inclusion cysts on palate/gums.
  • Tongue-tie: shortened tongue frenulum.
  • Ranula: self-resolving bluish mouth floor swelling (mucus retention cyst).
  • Oral candidiasis (thrush): mucosal white flecks and erythema. Treat with oral antifungal, e.g. nystatin suspension 1mL 6-hourly.

Heart

Murmurs are detected in 1–2% of all newborns, but only ~1 in12 will represent congenital heart disease.

If murmur heard, evaluate in the context of other clinical findings (cyanosis, signs of heart failure, peripheral pulses). An innocent heart murmur is likely

  • Murmur is grade 1–2/6, systolic, not harsh, loudest at the left sternal edge.
  • The remaining cardiovascular examination is normal.

Good evidence exists to support the use of pre and postductal saturation readings (right arm = pre, foot = post) as part of the assessment of a pathological murmur. ECG and 4-limb BP should also be performed. Echocardiography should be obtained in infants where there is clinical concern.

If murmur persists in an otherwise well infant, in whom no echocardiography has been performed, then arrange for repeat examination in a few days to weeks and consider referral for cardiac assessment.

Umbilicus

  • Umbilical hernia: protuberant swelling involving the umbilicus. Rarelystrangulates and almost all spontaneously resolve within 12mths.
  • Single umbilical artery: usually isolated and of no significance, but can be associated with several syndromes and IUGR.

Genitalia

  • Undescended testes: differentiate from retractile testes (can be persuaded into the scrotum). If still undescended at 1yr refer to a surgeon.
  • Hydrocele: common and most resolve by a year. If persists refer to a surgeon.
  • Vaginal mucoid or bloody discharge: due to maternal oestrogen withdrawal. It almost always spontaneously resolves.
  • Vaginal/hymenal skin tags: spontaneously shrink.
  • Inguinal hernias can rarely be present from birth. Refer to a surgeon. N.B. There is a relatively high likelihood of strangulation/incarceration.

Limbs

  • Single palmar crease: found in72% of normal babies. May be associated with chromosomal abnormalities, e.g. trisomy 21.
  • Polydactyly: can be isolated or associated with other abnormalities. Refer to a surgeon.
  • Syndactyly: most common between the second and third toes. Oftenfamilial. If toes only are affected require no treatment.
  • Postural deformities: common, especially after oligohydramnios or malpresentation, e.g. breech. Positional talipes is usually equinovarus or calcaneovalgus. If the affected joint can easily be massaged back to a normal neutral position, the deformity will rapidly resolve. If fixed (structural) refer to an orthopaedic surgeon/physiotherapist. These children are also at increased risk of DDH.

Miscellaneous

  • Jaundice
  • Sacral coccygeal pits: require no action if within the natal cleft. Higher pits require spinal imaging.
  • Breast swelling: almost always due to maternal hormones and may lactate. Spontaneously resolves over several weeks. It does not resolve then an endocrinology investigation is warranted.