Paeds misc Flashcards
Cardiac abnormality - maternal rubella infection
peripheral pulmonary stenosis, PDA
Cardiac abnormality - maternal systemic lupus erythematous
complete heart block (anti Ro and anti La antibody)
Cardiac abnormality - maternal Diabetes mellitus
all cardiac abnormalities increased overall
cardiac abnormality - maternal warfarin therapy
pulmonary valve stenosis, PDA
cardiac abnormality - fetal alcohol syndrome
ASD, VSD, tetralogy of fallot
cardiac abnormality - downs syndrome
atrioventricular septal defect, VSD
cardiac abnormality - turner syndrome
aortic valve stenosis, coarctation of aorta
cardiac abnormality - DiGeorge syndrome
aortic arch abnormalities, tetralogy of Fallot, common arterial trunk
cardiac abnormality - Williams syndrome
supravalvular aortic stenosis, peripheral pulmonary artery stenosis
cardiac abnormality - Noonan syndrome
hypertrophic cardiomyopathy, ASD, pulmonary valve stenosis
Fragile X
macrocephaly
learning difficulties
long face, large everted ears, prominent mandible and broad forehead
mitral valve prolapse, joint laxity, scoliosis, autism, hyperactivity
large ears
macro-orchidism
boys
Patau syndrome
microcephalic, small eyes cleft lip polydactyly scalp lesions trisomy 13 - cardiac and renal malformations
Edwards syndrome
micrognathia low set ears rocker bottom feet overlapping fingers trisomy 18 low birthweight prominent occiput cardiac and renal malformations
Noonan syndrome
webbed neck pectus excavatum short stature pulmonary stenosis, hypertrophic cardiomyopathy, ASD mild LD AD inherited
Pierre-Robin syndrome
micrognathia
posterior displacement of the tongue
cleft palate
prader-willi syndrome
hypotonia hypogonadism obesity neonatal feeding difficulties faltering growth
William’s syndrome
short stature learning difficulties friendly, extrovert personality transient neonatal hypercalcaemia supraventricular aortic stenosis
features of trisomy 21
craniofacial appearance - round face, flat nasal bridge - upslanted palpebral fissures - epicanthic folds - brushfield spots on iris other - short stature - single palmar crease - wide sandal gap - hypotonia - AVSD, VSD - duodenal atresia - hirschsprung later medical problems - delayed motor milestones - learning difficulties - secretory otitis media (hearing problems) - cataracts, myopia - leukaemia - DDH - OAS - hypothyroidism - early onset alzheimers
Turner syndrome
XO lymphodoema of hands and feet in neonate, may persist spoon shaped nails short stature neck webbing wide carrying angle (cubitus valgus) widely spaced nipples coarctation of aorta, aortic valve stenosis delayed puberty - ovarian dysgenesis hypothyroidism renal abnormalities recurrent otitis media
Klinefelter syndrome
XXY infertility hypogonadism and small testes pubertal development may appear normal gynaecomastia in adolescence tall stature
DiGeorge syndrome
22q11 - CATCH
Cardiac abnormalities - ToF, interrupted aortic arch, truncus arteriosis (murmur!!)
Abnormal facies - short philtrum, thin upper lip and prominent ear
Thymic aplasia
Cleft palate
Hypocalcaemia
At birth - developmental milestones
gross motor - limbs flexed, head lag, primitive reflexes
hearing, speech & language - startles to noise
