more paedsss Flashcards
Patau syndrome key features
puberty education degree, puberty = trisomy 13
Microcephalic, small eyes, cleft lip/palate, polydactyly, scalp lesions
Edwards syndrome key features
Education = trisomy 18
micrognathia
low set ears
rocker bottom feet
overlapping fingers
Fragile X features
learning difficulties, macrocephaly, long face, large ears, macro-orchidism
Noonan syndrome
webbed neck, pectus excavatum, short stature, pulmonary stenosis
Pierre-Robin syndrome
Micrognathia, posterior displacement of tongue, cleft palate
Prader-Willi syndrome
Hypotonia, hypogonadism, obesity
Williams syndrome
short stature, LD, friendly extrovert, transient neonatal hypercalcaemia, supraclavicular aortic stenosis
Treacher Collins
Autosomal dominant - FH of similar problems
Treacher Collins syndrome (TCS) is a genetic disorder that affects the development of the face and head.
Symptoms include:
Eyes: Slanted eyes, notched lower eyelids, and absent lower eyelashes
Jaw: Small lower jaw (micrognathia) and small upper jaw (maxillary hypoplasia)
Ears: Small, malformed, or absent ears (microtia)
Nose: Large and pointed nose
Cheekbones: Underdeveloped or absent cheekbones
Palate: Cleft palate
Hairline: Unusual hairline, with hair growing across the cheek like a sideburn
Airways: Narrow airways that can cause breathing problems
Hearing: Hearing loss
paeds basic life support
lay rescuers- 30:2, 15:2 if more than one rescuer
best way to confirm pertussis diagnosis
Per nasal swab
triad of shaken baby
retinal haemorrhages + subdural haematoma + encephalopathy
ALL presentation
anaemia, neutropenia, thrombocytopenia
most common childhood leukaemia
child has not responded to movicol next steps
add senna
TOF presentation and murmur
ejection systolic from left sternal edge (due to pulmonary stenosis, VSD doesn’t usually cause a murmur), cyanosis or collapse in first month of life, hyper cyanotic spells
boot shaped heart on x ray
PDA murmur
continuous machinery murmur
aortic or pulmonary regurgitation murmur
diastolic decrescendo
mitral stenosis murmur
mid diastolic murmur with opening click
mitral and tricuspid regurgitation murmur
pan systolic murmur
vaccine schedule
At birth - BCG if risk factors
2 months (8 weeks) - 6 in 1 (diphtheria, tetanus, whooping cough, polio, Hib and Hep B), oral rotavirus, Men B
3 months (12 weeks) : 6 in 1, oral rotavirus, PCV (pneumococcal conjugate)
4 months (16 weeks) : 6 in 1, Men B
12-13 months: HiB/Men C, MMR, PCV, Men B
2-8 years annual flu vaccine
3-4- years: pre school booster (diphtheria, tetanus, whooping cough, polio)
12-13 : HPV vaccination
13-18: Men ACWY, 3 in 1 (tetanus, diphtheria and polio)
At birth vaccine
BCG if risk factors
vaccine 13-18:
Men ACWY, 3 in 1 (tetanus, diphtheria and polio)
vaccine 2 months (8 weeks) -
6 in 1 (diphtheria, tetanus, whooping cough, polio, Hib and Hep B), oral rotavirus, Men B
vaccine 3-4- years:
pre school booster (diphtheria, tetanus, whooping cough, polio)
3 months (12 weeks) :
6 in 1, oral rotavirus, PCV (pneumococcal conjugate)
