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While
there are many types of congenital anomalies, only a
few of them are common. Some require urgent surgical
attention while others should be left alone until the
child is older. However, resuscitation cannot await referral
and you may need to perform essential life-saving interventions
prior to referral of the child for definitive surgery.
Intestinal obstruction
Any newborn with abdominal distension, vomiting or no
stool output, has a bowel obstruction until proven otherwise.
Bile stained (green) vomiting can be a sign of a life
threatening condition. A peristaltic wave across the
abdomen can sometimes be seen just before the child vomits:
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Place
a nasogastric tube |
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Start
intravenous fluids |
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Keep
the child warm |
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Transfer
the child, if possible. |
If transfer is not possible, perform a laparotomy (see
pages 6–1 to 6–4) to rule out midgut volvulus
which can result in gangrene of the entire small intestine.
Under ketamine anaesthesia, untwist the bowel. Close
the abdomen and, when the child is stable, refer for
definitive management.
Hypertrophic pyloric stenosis
Non-bilious (not green) vomiting can be caused by hypertrophic
pyloric stenosis. This condition is caused by enlargement
of the muscle that controls stomach emptying (pylorus).
In a relaxed infant, a mass is palpable in the upper
abdomen at the midline or slightly to the right of the
midline.
The condition most commonly occurs in male infants 2–5
weeks of age. It is treated with pyloromyotomy. Infants
with pyloric stenosis commonly present with dehydration
and electrolyte imbalances. Intravenous fluid resuscitation
is required urgently:
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Use
normal saline (20 ml/kg bolus) and insert a nasogastric
tube |
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Repeat
the fluid boluses until the infant is urinating and
vital signs have corrected to normal (2 or 3 boluses
may be required). |
Once the fluid and electrolyte abnormalities have been
corrected, provide for maintenance for ongoing losses
and transfer the patient for urgent management by a qualified
surgeon.
Oesophageal atresia
Failure of oesophageal development is often associated
with a fistula from the oesophagus to the trachea. The
newborn presents with drooling or regurgitation of the
first and subsequent feeds. Choking or coughing on feeding
is frequent. An X-ray with a nasogastric tube coiled
up in an air filled pouch is diagnostic.
Keep the infant warm and nurse in the 30° head up
position. Place a sump drain in the oesophageal pouch
and administer intravenous fluids calculated according
to weight. The child will inevitably get pneumonia, so
give antibiotics. Refer the stable infant to a paediatric
surgeon.
Abdominal wall defects
Defects of the abdominal wall occur at or beside the
umbilicus:
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In
omphalocoele, there is a transparent covering over
the extruding bowel |
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In
gastroschisis, the bowel is exposed:
– If the bowel is strangulated in a gastroschisis, make an incision in
the full thickness of the abdominal wall to increase the size of the opening
and relieve the obstruction
– Apply a sterile dressing and then cover with a plastic bag to prevent
fluid loss; exposed bowel can lead to rapid fluid loss and hypothermia
– Transfer the baby urgently to a qualified surgeon.
Anorectal anomalies |
Imperforate anus can occur in a variety of forms. The
diagnosis should be made at birth by examining the anus.
There may be no opening at all. In other instances, a
tiny opening discharging a little meconium may be seen
at the base of the penis or just inside the vagina.
Delay in diagnosis may cause severe abdominal distension,
leading to bowel perforation. Place a nasogastric tube,
start intravenous fluids and transfer the child to a
surgeon. A transverse loop colostomy is the emergency
treatment of anorectal obstruction. Arrange for repair
of the anomaly by a qualified surgeon on an elective
basis.
Meningomyelocele (spina bifida)
Meningomyelocele is the name given to a small sac that
protrudes through a bony defect in the skull or vertebrae.
The most common site is the lumbar region. It may be
associated with neurological problems (bowel, bladder
and motor deficits in the lower extremities) and hydrocephalus.
These patients should always be referred:
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Hydrocephalus
will progress without a shunt being placed |
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Meningitis
occurs if the spinal defect is open. |
The defect should be covered with sterile dressings and
treated with strict aseptic technique until closure.
Cleft lip and palate
Cleft lip and palate may occur together or separately.
A baby with a cleft palate may have difficulty sucking,
leading to malnutrition. An infant with cleft lip or
palate who is not growing normally should be fed with
a spoon. The operation for a cleft lip is best done at
6 months of age and cleft palate at 1 year. Urgent referral
is not required.
Congenital orthopaedic disorders
Disability can be avoided with early treatment of two
of the most common congenital orthopedic disorders:
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Talipes
equinovarus (club foot) |
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Congenital
hip dislocation. |
Talipes equinovarus (club foot)
Club foot is a deformity that may be bilateral. It can
often be corrected by early treatment (see pages 19–3
to 19–4).
Dislocation of the hip
All children should be screened for this problem at birth.
The diagnosis is suggested by clinical examination:
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When
the dislocation is unilateral:
– The limb is short
– There is limited abduction when the hip is flexed
– The skin crease at the back of the hip appears asymmetrical |
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When
the flexed hip is abducted, a click can often be
felt as the dislocated femoral head enters the acetabulum
(Ortolani’s sign). |
In some regions of the world, this problem is uncommon
because infants are carried on the mother’s back.
See pages 19–1 to 19–2 for treatment.


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By recognizing common congenital
conditions you can identify when urgent referral is required
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Jaundice in the newborn is usually
physiological or due to ABO incompatibility; if it is
progressive, however, consider a congenital abnormality
of the biliary tree.
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