Genetic Disease + Congenital Abnormality Flashcards

Question

Tetralogy of Fallot

Answer 1

``` VSD Right ventricular hypertrophy + outflow tract obstruction Overriding aorta Presents ~ 6 months Cyanotic spells ```

Answer 2

``` Herniation of bowel through anterior abdominal wall Not covered with membrane Not associated with other abnormalities Fluid, electrolyte + heat losses Dehydration, hyponatraemia, hypothermia ```

Answer 3

Late pregnancy insult: | GDM, pre-eclampsia,

Answer 4

Early pregnancy insult (from 1st trimester) Chromosomal anomaly Maternal smoking/alcohol use Congenital infection

Answer 5

``` X linked - WASp gene actin affected Eczema Thrombocytopenia Recurrent infection (Petechiae, bruising) ```

Answer 6

Congenital Hypothyroidism PKU CF (SCD + thalassemia)

Answer 7

Hypotonia | Coarse facies

Answer 8

Thin top lip Short nose Small eyes + hypertelorism (incr distance betw eyes)

Answer 9

Permanent non-progressive lesion in the developing brain Prenatal: Delivery: Post natal:

Answer 10

Abnormal tone in first yr of life: initially hypotonic -> spasticity Delay in gross motor development/ abnormal movements Primitive reflexes persist longer than usual: Moro + grasp Assoc issues: learning difficulties, epilepsy, visual impairment, hearing loss, speech disorders, behavioural disorders, resp problems

Answer 11

70% Hemiplegic Diplegic Quadriplegic

Answer 12

Ataxic: Dyskinetic: Mixed:

Answer 13

AD Bony fragility = recurrent fractures + deformity Wormian bones on skull X Ray: irreg isolated bones Blue sclerae Conductive hearing loss: 50% Aortic valve regurg: diastolic murmur

Answer 14

Defect in ant abdo wall adjacent to umbilicus Abdo contents can herniated through the defect No sac covering contents Immed management = cover exposed viscera Surgical repair Rarely assoc with any other congenital malformation

Answer 15

Herniation of the abdominal contents through the umbilicus Herniated viscera are surrounded by sac: amnion = omphalocele Surgical closure required 50% assoc with other congenital malformations

Answer 16

Congenital diverticulum with gastric type mucosa A true diverticula it incorporates all layers of the wall from which it arises 2 feet proximal to ileocaecal junction 2 inches in length, 2% of population Painless rectal bleeding Susceptible to peptic ulceration Dx confirmed by technetium99m scan as only taken up by gastric type mucosa Resection may be required

Answer 17

Ranges from partial subluxation to frank dislocation 6x more common in female infants L hip > R hip RF: +ve fhx, breech delivery, spinal/neuromusc abnormalities, oligohydramnios

Answer 18

``` Neonatal screening using Barlow + Ortolani's tests At birth At 6 wks Good +ve predictive value Poor -ve predictive value ```

Answer 19

Asymmetrical skin folds Limited abduction Shortening of affected limb + limp

Answer 20

Conservative: for several months abduction in Craig's splint / restraining device Pavlik harness Monitor progress on USS or X-ray Failure of conservative methods -> open reduction + femoral osteotomy Complication: necrosis of femoral head

Answer 21

Foot inverted + plantar flexed 1/500 births 50% bilat Causes: secondary to intrauterine pressure e.g. Oligohydramnios, or neuromusc disorder e.g. Spina bifida

Answer 22

Passive stretching + strapping | Severe deformity may require corrective surgery

Answer 23

AD microdeletion 7q11 Short stature Elf-like faces, transient hypercalcaemia, supra valvular aortic stenosis Mild-moderate learning disability

Answer 24

Microdeletion