Paediatrics Flashcards
mode of inheritance of sickle cell
autosomal recessive
mode of inheritance of cystic fibrosis
autosomal recessive
mode of inheritance of huntingtons
autosomal dominant
mode of inheritance of achondroplasia
autosomal dominant
can a male pass on an mitochondrial disease
no
give 2 examples of conditions with genetic anticipation
huntingtons and myotonic dystrophy
small head and eyes with cleft lip, polydactyly and scalp lesion
patau
trisomy 13
small jaw, low set ears, overlapping fingers and rocker bottom feet
edwards
trisomy 18
large/long face and ears, large testes, learning difficulties and mitral valve issue
fragile x syndrome
short, webbed neck, pectus excavatum, pulmonary stensosis
noonan syndrome
small jar, cleft palate, posterior displacement of the tongue
pierre-robin syndrome
hypotonia, small tests and constant hunger
prader willi
inheritance of prader willi
imprinting
short, broad forehead, friendly, learning difficulties, neonatal hyperglycaemia and aortic stenosis
williams syndrome
characteristic cry, poor feeding, learning difficulties, small head and jaw with a large gap between the eyes
Cri du Chat
chromososmal 5 deletion
short with a shield chest, widely spaced nipples, webbed neck, cystic hygroma, primary amenorrhoea, hypothyroid and lymphoedema
turners syndrome
cardiac abnormalities in turners syndrome
bicuspid aortic valve, coarctation of the aorta, ejection systolic murmur
What does the APGAR score stand for and how is it calculated
Appearance, Pulse, Grimace, Activity, Respiration
0-1-2 in each
compression: ventilation in newborn resuss
3 compression to 1 ventilation
compression rate in all infant arrests
100-120 bpm
where do you check for a pulse in neonates
femoral and brachial
define neonatal death
between birth and 28 days
when is the newborn blood spot carried out
5-9 days
is it normal for saturations to drop in the first 10 mins of life
yes