Major congenital anomalies

Question 1

What is another name for a Port-Wine stain?

Answer 1

Naevus flammeus

Question 2

When does a Port-Wine stain usually appear?

Answer 2

present from birth - usually grows with the infant

Question 3

What causes a Port Wine stain?

Answer 3

due to a vascular malformation of the capillaries in the dermis

Question 4

What are 2 serious things that Port-Wine stain can rarely be associated with and what is the name of each condition?

Answer 4

1. Rarely associated with intracranial vascular anomalies: Sturge-Weber syndrome
2. Severe lesions on limbs with bone hypertrophy: Klippel-Trenaunay syndrome

Question 5

What is a treatment for disfiguring port-wine stains?

Answer 5

can be improved with laser therapy

Question 6

What is another name for a strawberry naevus?

Answer 6

cavernous haemangioma

Question 7

When do strawberry naevi usually appear?

Answer 7

usually not present at birth but appear in first month of life, may be multiple

Question 8

In which infants are strawberry naevi (cavernous haemangiomas) more common?

Answer 8

preterm infants

Question 9

What is the natural course of strawberry naevi?

Answer 9

increase in size until 3-15 months then gradually regress

Question 10

What is the treatment for small strawberry naevi?

Answer 10

no treatment indicated, but topical propranolol may speed regression

Question 11

What is the treatment of large strawberry naevi or those that interfere with vision/airway?

Answer 11

oral propranolol

Question 12

What are 2 possible complications of strawberry naevi?

Answer 12

ulceration, haemorrhage

Question 13

Where are natal teeth usually located?

Answer 13

front lower incisors

Question 14

What is the management of natal teeth?

Answer 14

if loose, should be removed to avoid risk of aspiration

Question 15

What may be the nature of extra digits in the neonate?

Answer 15

may be connected by a thin skin tag but may be completely attached containing bone

Question 16

What is the management of extra digits?

Answer 16

should be removed by plastic surgeon or else tied off at base

Question 17

What is the management of skin tags anterior to the ear and accessory auricles?

Answer 17

should be removed by a plastic surgeon

Question 18

What are 3 investigations of a heart murmur if there are any features of a significant murmur?

Answer 18

1. Upper and lower limb blood pressures should be measured
2. Pre-ductal and post-ductal pulse oximetry
3. Echocardiogram

Question 19

If a heart murmur is detected but there are no features of a significant murmur, what is the management?

Answer 19

follow-up examination arranged and parents warned to seek medical assistance if baby feeds poorly, develops laboured breathing, or becomes cyanosed

Question 20

What must be done if a midline abnormality over the spine or skull e.g. hair tuft, swelling, naevus is found?

Answer 20

requires further investigation as may indicate underlying abnormality of vertebrae, spinal cord, or brain

Question 21

What can a palpable and large bladder indicate?

Answer 21

urinary outflow obstruction

Question 22

In which neonates is urinary outflow obstruction most common?

Answer 22

boys with posterior urethral valves

Question 23

What is the management of a palpable and large bladder in the neonate?

Answer 23

requires prompt evaluation with ultrasound

Question 24

In which gender is talipes more common?

Answer 24

twice as common in males than females

Question 25

What proportion of talipes equinovarus is bilateral?

Answer 25

50% of cases

Question 26

What are 5 associations of talipes equinovarus?

Answer 26

1. Spina bifida
2. Cerebral palsy
3. Edward’s syndrome (trisomy 18)
4. Oligohydramnios
5. Arthrogryposis

Question 27

What is the management of talipes equinovarus? 3 aspects

Answer 27

1. usually conservative e.g. Ponseti method: manipulation and progressive casting which starts soon after birth
   
   1. usually corrects deformity after 6-10 weeks
2. Achilles teotomy required in 85% of cases, usually under local anaesthetic
3. night time braces until child aged 4 years