congenital abnormalities Flashcards
what is achondroplasia
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
Sutures allow growth and development of the head , you don’t want early fusions of the sutures either
what is craniosynostosis and what complication
where the bones in the head join way to early together and this could lead to hydrocephalus
what is plagiocephaly
head flattened on one side usually down to sleeping position
what is scaphocephaly
narrow and long skull shape in sagittal craniosynostosis due to premature fusion of the sagittal suture
Brachycephaly
the back of the head becomes flattened, causing the head to widen, and occasionally the forehead bulges out- baby sleeping on back
downs syndrome list features go
– 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
frontal bossing
overgrowth syndromes
Single gene defects - Dominant
hereditary spherocytosis
achondroplasia
neurofibromatosis
single gene defects - recessive
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
what is hirschprung disease
– 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
CHARGE syndrome
collarbone - problems with their senses of sight, hearing, smell, taste and touch. Deaf blindness at birth
anaerobic bacteria treated with what abx
metronidazole
Turner syndrome 45XO features
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
Gastroschisis vs Exomphalos ( omphocele)
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.
Developmental dysplasia of the hips features
Developmental dysplasia of the hips – hip within a shallow acetabulum, subluxation, frank dislocation , delayed walking, leg crease asymmetry, leg length discrepancy, clicky hips
rf for developmental dysplasia of the hip
more common in the left hip
female sex: 6 times greater risk
breech presentation
positive family history
firstborn children
oligohydramnios
birth weight > 5 kg
congenital calcaneovalgus foot deformity
how is developmental dysplaisa of the hip checked
2 ways
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
what would you see and do on a newborn babies hips
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
what confrims the diangosis fo dysplasia of hip
imaging
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
if the child is under 4 and a half months what imaging technique is used to diagnose developmental dysplasia of the hip
X-ray
management of developmental dysplasia of the hips
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
features of foetal alcohol syndrome
Fetal alcohol sydnorem – short nose, smooth philtrum, smooth mupper lip – spaced look – small eye opening
features of rubella
blue-berry muffin rash, cataract, deafness and Cardiac
what is club foot
club foot (also called talipes) is where a baby is born with a foot or feet that turn in and under.
what would you see in oesphageal atresia
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
what is PEWS
pead early warning score for sepsis
how long cough for bronchitis
chronic productive cough for at least 3 months
what signs and sx would make you worry about abuse
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
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
cerebral palsy
Mx of status epilepticus
buccal midazolam, IV lorazepam second line IV access
tropia postitions of the eye
Eso – in
Exo – out
Hyper – up
Hypo – down
tx of hyperemesis gravidarum
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
