VACTERL / VATER Syndrome- Features
- Incidence
- 16 cases per 100,000 live births
- Seen more frequently in infants born to diabetic mothers
- Aetiology
- Cause and association unknown
CCHS
- Congenital Central Hypoventilation Syndrome AKA Ondine's curse
- Aetiology
- Congenital
- or Developed due to severe neurological trauma to the brainstem
- Prevalence: 1/200,000 live births
- Pathophysiology
- Inborn failure of autonomic control of breathing
- Causes apnoea when sleeping
- Children develop life-threatening episodes of apnea with cyanosis, usually in the first months of life
- Management
- Most people with Ondine's curse do not survive infancy, unless they
receive ventilatory assistance during sleep
- An alternative to a
mechanical ventilator is Phrenic Nerve Pacing/diaphragm pacing
- Associations
Neonatal Baby Check- Listen and observe
- Assess overall appearance
- Note general tone, sleepiness and rousability
- Observe general condition, proportions and maturity
- Look carefully
- Evidence of jaundice (preferably in bright, natural light)
- Are there any birthmarks, rashes or other skin abnormalities?
- Listen
- To the baby's cry and note its sound
- Weigh
- Head
- Shape, presence of fontanelle and whether normal, sunken or bulging
- Measure and record head circumference on growth chart
- Assess facial appearance and eye position
- Look for any asymmetry or abnormality of facial form
- Eyes
- Ears
- Shape and size
- Are they set at the normal level or 'low set'?
- Check patency of external auditory meatus
- Mouth
- Colour of mucous membrane, observe the palate
- Check suckling reflex by inserting a clean little finger gently inside baby's mouth
- Arms and hands
- Are they of normal shape and moving normally?
- Look for evidence of traction birth injury (eg Erb's palsy) by checking neck, shoulders and clavicles
- Count fingers and observe their shape – is there any evidence of clinodactyly (incurving of fingers)?
- Check palmar creases – are they multiple or single?
- Peripheral pulses
- Check brachial, radial and femoral pulses for rate, rhythm and volume
- A hyperdynamic pulse may suggest persistent ductus arteriosus
- A weak pulse may occur with a congenital cardiac anomaly (impairing cardiac output and in conjunction with other signs from the examination)
- Check for radio-femoral delay (aortic coarctation)
- Heart
- Check cardiac position by palpation and feel for any thrill or heave
- Listen to the heart sounds carefully and for any added sounds or murmurs
- Lungs
- Watch respiratory pattern, rate and depth for a few seconds
- Look for any evidence of intercostal recession
- Listen for stridor
- Auscultate lung fields for for added sounds
- Abdomen
- Look at abdominal girth and shape
- Carefully check the umbilical stump for infection or surrounding hernia
- Palpate gently for organs, masses or herniae
- It is common to be able to feel the liver and/or spleen in healthy newborns
- Check the external genitalia carefully (see Ambiguous Genitalia)
- Palpate for testicles in boys
- Inspect the anus (has meconium been passed?)
- Back
- Look carefully at skin over back and at spinal curvature/symmetry
- Is there any evidence of spina bifida occulta or pilonidal sinus hidden by flesh creases or dimples?
- Palpate the spine gently
- Hips
- Legs
- Watch movements at each joint
- Check for any evidence of talipes equinovarus
- Count toes and check shape
- CNS
- Observe tone, behaviour, movements and posture
- Elicit newborn reflexes only if there is cause for concern
Notes- 3541 / 5341 / 1245
- Sijo Francis / Matt
- Congenital heart abnormalities massively run in families
- Congenital talipes equinovarus (CTEV)
- Imperforate anus
- Low can (sometimes) be fixed directly
- High often form fistulae to the GUT and require a 3-stage operation to fix
- Hip tests
- Ortolani: Is is already out?
- Barlow: Can I make it come out?
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