Child Health Flashcards
Physical features of achondroplasia?
Trident hands
Short limbs
Lumbar lardosis
Midface hypoplasia
Causative organism for croup?
Parinfluenza virus
What is William’s syndrome?
Neurodevelopmental disorder caused by microdeletion on chromosome 7
Features of William’s?
Elfin like facies
Friendly and social
LD
Short stature
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
If a girl has haemophilia what else do you think she has?
TURNER’S SYNDROME
Because it is X-linked recessive, if a girl is symptomatic that should raise alarm bells (Turner’s only have one X- chromosome)
7 features of DDH?
7 F’s
-First born
-Female
-Fat (macrosomia)
-Fair (caucasian)
-Feet (breech)
-F*ck all Fluid (oligohydraminos) (none)
-Family (Fam Hx)
What does this baby have?
-Retinal haemorrhages, subdural haematoma, encephalopathy
Shaken baby syndrome
If a child has dyskinetic cerebal palsay which area of the brain is affected?
Basal ganglia
Substantia nigra
(These areas are involved with regulating voluntary movement and posture)
Sausage shaped mass in abdomen?
Intussusception
What does gastroschisis refer to?
Defect lateral to umbilicus
What does omphalocele refer to?
Defect in umbilicus itself
Why is diabetes a risk factors for neonatal respiratory distress syndrome?
Insulin (increased in diabetic mothers) inhibits surfactant production and maturation of fetal lungs
First MMR vaccine given when?
12-13 months
Then
3-4 as booster
Which genetic defect puts a child more at risk of developing acute lymphocytic leukaemia?
Down’s syndrome
What heart condition is associated iwth Turner’s
Bicuspid valve
(ejection systolic murmur)
However Aortic dissection is the most serious associated heart condition
Achondroplasia has what inheritance pattern?
AD
Supravalvular aortic stenosis makes you think what?
Williams syndrome
What age do kids ask what and who Qs? (milestones wise)
3 years
What age do they ask why when and how Qs?
4 years
CXR Findings in transient tachnypnoea of the newborn?
Hyperinflation and fluid in horizontal fissue
Drug for child nocturnal eneuresis?
Desmopresin
If a man has mitochondrial genetic disease what is the likelihood that his children will inherit it?
0%
Mitochondrial always passed down mother’s line
Parallel aorta and pulmonary trunk on echo is indicative of what?
Transposition of great arteries
What do you give in transposition of great arteries?
Prostaglandin E1 to maintain ductus arteriosus
Treatment of paediatric malrotation with volvulus?
Ladd’s procedure (division of Ladd bands and widening of base of mesentery)
A child aged <3 months with a fever >38 degrees should be assessed as what?
HIGH RISK : same day paeds assessment
Good pincer grip time?
12 months
Causes of microcephaly?
Normal
Familial
Congenital infection
Perinatal brain injury
Fetal alcohol
Patau syndrome
Craniosynostosis
Cap BG of <1mmol/L is characterised as what in a neonate and what is needed to be done?
VERY LOW
Paeds team review
IV dextrose infusion
Newborn baby base line levels?
HR:100-160
RR: 30-60
Temp: 37 degrees
What is the organism causing threadworms?
Enterobius vermicularis
Sit without support timeline for kids milestones?
6-8 months
Pavlik’s harness is for what?
DDH
NOT Perthes boyyyyyyyy
Child older than 6 with Perthes?
Surgical correction
Screening newborns for heraing problems test?
Otoacoustic emission test
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Impendance audiometry testing if this is failed
What is the best predictor or clinical severity and cyanosis in tetralogy of fallot?
Degree of pulmonary stenosis
Most common cause of ambiguous genetalia?
Congenital adrenal hyperplasia
Genetic anticipation occurs in which disorders?
Trinucleotide repeat disorders
-Huntington’s
-Myotonic dystrophy
-Fragile X
-Friedreich’s ataxia
-Spinocerebellar ataxia
-Spinobulbar msucular atrophy
-Dentatorubral pallidouysian atrophy
Right atrial hypertrophy and septal and posterior leaflet of tricuspid valve attached to right ventricle? What is this?
Ebstein’s anomaly
Huntington’s inheritance?
AD
What do all breech babies at or after 36 weeks gestation require post natally and when exactly?
USS
For DDH screening
6 weeks
Investigation for intussusception?
Abdo US
Visible peristalsis makes you think what in a baby?
Pyloric stenosis
1st line investigation for DDH?
Child <4.5 months USS
Diagnosing DDH in a child >4.5 months?
X-ray
Cause of Ebstein’s anomaly?
Lithium in pregnancy