Major congenital anomalies Flashcards
What is another name for a Port-Wine stain?
Naevus flammeus
When does a Port-Wine stain usually appear?
present from birth - usually grows with the infant
What causes a Port Wine stain?
due to a vascular malformation of the capillaries in the dermis
What are 2 serious things that Port-Wine stain can rarely be associated with and what is the name of each condition?
- Rarely associated with intracranial vascular anomalies: Sturge-Weber syndrome
- Severe lesions on limbs with bone hypertrophy: Klippel-Trenaunay syndrome
What is a treatment for disfiguring port-wine stains?
can be improved with laser therapy
What is another name for a strawberry naevus?
cavernous haemangioma
When do strawberry naevi usually appear?
usually not present at birth but appear in first month of life, may be multiple
In which infants are strawberry naevi (cavernous haemangiomas) more common?
preterm infants
What is the natural course of strawberry naevi?
increase in size until 3-15 months then gradually regress
What is the treatment for small strawberry naevi?
no treatment indicated, but topical propranolol may speed regression
What is the treatment of large strawberry naevi or those that interfere with vision/airway?
oral propranolol
What are 2 possible complications of strawberry naevi?
ulceration, haemorrhage
Where are natal teeth usually located?
front lower incisors
What is the management of natal teeth?
if loose, should be removed to avoid risk of aspiration
What may be the nature of extra digits in the neonate?
may be connected by a thin skin tag but may be completely attached containing bone
What is the management of extra digits?
should be removed by plastic surgeon or else tied off at base
What is the management of skin tags anterior to the ear and accessory auricles?
should be removed by a plastic surgeon
What are 3 investigations of a heart murmur if there are any features of a significant murmur?
- Upper and lower limb blood pressures should be measured
- Pre-ductal and post-ductal pulse oximetry
- Echocardiogram
If a heart murmur is detected but there are no features of a significant murmur, what is the management?
follow-up examination arranged and parents warned to seek medical assistance if baby feeds poorly, develops laboured breathing, or becomes cyanosed
What must be done if a midline abnormality over the spine or skull e.g. hair tuft, swelling, naevus is found?
requires further investigation as may indicate underlying abnormality of vertebrae, spinal cord, or brain
What can a palpable and large bladder indicate?
urinary outflow obstruction
In which neonates is urinary outflow obstruction most common?
boys with posterior urethral valves
What is the management of a palpable and large bladder in the neonate?
requires prompt evaluation with ultrasound
In which gender is talipes more common?
twice as common in males than females
What proportion of talipes equinovarus is bilateral?
50% of cases
What are 5 associations of talipes equinovarus?
- Spina bifida
- Cerebral palsy
- Edward’s syndrome (trisomy 18)
- Oligohydramnios
- Arthrogryposis
What is the management of talipes equinovarus? 3 aspects
- usually conservative e.g. Ponseti method: manipulation and progressive casting which starts soon after birth
- usually corrects deformity after 6-10 weeks
- Achilles teotomy required in 85% of cases, usually under local anaesthetic
- night time braces until child aged 4 years
