congenital abnormalities

Question 1

what is achondroplasia

Answer 1

Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism

• short stature, shotended arms and legs, large head to body size, abnroaml hadn appearance with space between fingers, bowed legs and decreased muscle tone

Question 2

Sutures allow growth and development of the head , you don’t want early fusions of the sutures either

what is craniosynostosis and what complication

Answer 2

where the bones in the head join way to early together and this could lead to hydrocephalus

Question 3

what is plagiocephaly

Answer 3

head flattened on one side usually down to sleeping position

Question 4

what is scaphocephaly

Answer 4

narrow and long skull shape in sagittal craniosynostosis due to premature fusion of the sagittal suture

Question 5

Brachycephaly

Answer 5

the back of the head becomes flattened, causing the head to widen, and occasionally the forehead bulges out- baby sleeping on back

Question 6

downs syndrome list features go

Answer 6

– broad flat face and flattened nasal ridge, widening of eyes- intrapapillary distance, up slanting palpebral fissures, umbilical hernia, small palate and hands , Problems include AVSD, VSD, PDA , duodenal atresia diagnosed with bilious green vomit ( double bubble sign on xray, gas bubble seen in duodenum just prior to the atresia, due to ari from stomach being between the pylorus sphincter and end of duodenum – surgical fix duodenoduodenostomy) , ALL, Alzheimer’s later life, thyroid , sleep disroders

Question 7

frontal bossing

Answer 7

overgrowth syndromes

Question 8

Single gene defects - Dominant

Answer 8

hereditary spherocytosis
achondroplasia
neurofibromatosis

Question 9

single gene defects - recessive

Answer 9

CF (meconium ileus- babies first stool is so thick and sticky causing internal obstruction , meconium may not pass for 48hr – xray bubbly appearance, managed with drip and suck , IV fluids and stomach drain ( ryles) – DELTAF5O8 ) pancreatic deficiency and deficiency in vit ADEK – fat soluble vitamins
- sickle cell -african American
- CAII

Question 10

what is hirschprung disease

Answer 10

– delayed passing of meconium over 48hr 1st pass, distended abdo and forceful evacuation of meconium after digital rectal examination -CCHS, rectal biopsy of different segments , poor weight gain, removal of section of ganglionic colon and healthy bowel pulled through is treatment

Question 11

CHARGE syndrome

Answer 11

collarbone - problems with their senses of sight, hearing, smell, taste and touch. Deaf blindness at birth

Question 12

anaerobic bacteria treated with what abx

Answer 12

metronidazole

Question 13

Turner syndrome 45XO features

Answer 13

Short stature, constriction of aorta, poor breast development, widely spaced nipples, elbow deforms, no periods nad female – get them an echocardiogram , lymphoedema of hands and feet, webbed neck

Question 14

Gastroschisis vs Exomphalos ( omphocele)

Answer 14

Gastroschisis is a defect of the abdominal wall, which results in your baby’s bowel being outside of their tummy. This means the bowel is not protected by any membrane or sac. Exomphalos is a defect at the base of the umbilical cord. It causes the bowel to push through (herniate) into the umbilical cord.

Question 15

Developmental dysplasia of the hips features

Answer 15

Developmental dysplasia of the hips – hip within a shallow acetabulum, subluxation, frank dislocation , delayed walking, leg crease asymmetry, leg length discrepancy, clicky hips

Question 16

rf for developmental dysplasia of the hip

more common in the left hip

Answer 16

female sex: 6 times greater risk
breech presentation
positive family history
firstborn children
oligohydramnios
birth weight > 5 kg
congenital calcaneovalgus foot deformity

Question 17

how is developmental dysplaisa of the hip checked

2 ways

Answer 17

Screening for DDH
the following infants require a routine ultrasound examination
first-degree family history of hip problems in early life
breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery
multiple pregnancy
all infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests

Question 18

what would you see and do on a newborn babies hips

Answer 18

Barlow test: attempts to dislocate an articulated femoral head
Ortolani test: attempts to relocate a dislocated femoral head
other important factors include:
symmetry of leg length
level of knees when hips and knees are bilaterally flexed
restricted abduction of the hip in flexion

Question 19

what confrims the diangosis fo dysplasia of hip

imaging

Answer 19

maging
ultrasound is generally used to confirm the diagnosis if clinically suspected
however, if the infant is > 4.5 months then x-ray is the first line investigation

Question 20

if the child is under 4 and a half months what imaging technique is used to diagnose developmental dysplasia of the hip

Answer 20

X-ray

Question 21

management of developmental dysplasia of the hips

Answer 21

most unstable hips will spontaneously stabilise by 3-6 weeks of age
Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months
older children may require surgery

Question 22

features of foetal alcohol syndrome

Answer 22

Fetal alcohol sydnorem – short nose, smooth philtrum, smooth mupper lip – spaced look – small eye opening

Question 23

features of rubella

Answer 23

blue-berry muffin rash, cataract, deafness and Cardiac

Question 24

what is club foot

Answer 24

club foot (also called talipes) is where a baby is born with a foot or feet that turn in and under.

Question 25

what would you see in oesphageal atresia

Answer 25

polyhydramnios , cough and choking on feeding , frothing at the mouth

This combined with fistula with trachea
Resp depression, distended abdomen, choking problems with swallowing, overflow saliva
Difiuctly passing NG tube down

Question 26

what is PEWS

Answer 26

pead early warning score for sepsis

Question 27

how long cough for bronchitis

Answer 27

chronic productive cough for at least 3 months

Question 28

what signs and sx would make you worry about abuse

Answer 28

Posterior rib fractures- non-accidental
Retinal haemorrhages
Bruising and can’t roll over
Bruising off the pinna
Delayed presentation in history – or dint present for treatment

Question 29

Hypotonia, delayed motor milestones, tip toe walk, difficulty swallowing food and speech impediment.
Spastic (stiff muscles difficult for ranges of movement, scissor gate, abductor muscles partially flexed)
dyskinetic
Ataxic – damage to cerebellum
Mixed
Bloating
Diarrhoea
Flatulence
Malnutrition and GI reflux
Cx osteoporosis 2ndry too osteopenia
Epilepsy associated

Sx of what

Answer 29

cerebral palsy

Question 30

Mx of status epilepticus

Answer 30

buccal midazolam, IV lorazepam second line IV access

Question 31

tropia postitions of the eye

Answer 31

Eso – in
Exo – out
Hyper – up
Hypo – down

Question 32

tx of hyperemesis gravidarum

Answer 32

2L NaCl with KCL or Hartman’s
Avoid glucose as can lead to Wernicke’s encephalopathy
Iv cyclizine 50mg stat or IV metoclopramide or IM prochlorperazine
Thiamine
Folic acid
Consider ranitidine 150mg
Thromboprophaalxis – prophylactic daltiparin
~TVUS
Blood

1st - antihistamines should be used first-line
oral cyclizine or oral promethazine is recommended
oral prochlorperazine is an alternative

2nd - ondansetron ( 1st trimester cleft lip) and metoclopramide ( dont use for more than 5 days)

Refractory hyperemesis

Pyridoxine PO
Steroids – hydrocortisone
Ginger – foods high
Total parenteral nutrition – not recommend until steroids and antiemetics failed – consider H pylori breath test
Morning sickness responded to oral antiemetics