congentical syndromes Flashcards
upslanting palpebral fissures, epicanthic folds, small low-set ears and a round face?
Down’s syndrome
tall stature, arm span to height ratio > 1.05, high-arched palate and pectus excavatum.
MArfans - autosomal dominant connective tissue disorder
Conditions that Down’s is associated with?
duodenal atresia
Hirschsprung’s disease
repeated respiratory infections (+hearing impairment from glue ear)
ALL
hypothyroidism
Alzheimer’s disease
atlantoaxial instability
subfertilitiy
brushfield spots
Down’s - heart complications?
ASD most common
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)
lymphodeama in neonate?
turners
Conditions AF with turners?
heart?
physical?
hypothyroidism
horseshoe kidney:
autoimmune thyroiditis) Crohn’s disease
primary amen, raised gonadotrophins,
SNHL
heart - COA, bicuspis AV (crescendo -decresendo upper right sternal border radiating to carotids.
SX: wide spaced nipples, prim amen, short, shielf chest, short 4th metacarpal, high arches palate,
systolic murmur in the left infraclavicular area and under the left scapula
CoA - turners
duchenne heart complication?
dilated CMP
47XXY
klinfelters
46XY
androgen insensitivity
DX with buccal smear, risk of tesicular cancer , low test, high LH
androgen insensitivty
An infant is found to have small eyes and polydactyly, microcephaly, cleft lip and palate. with scalp lesion
patau syndrome. trisomy 13
Transient neonatal hypercalcaemia.
AF heart condition?
sx?
williams, aortic stenosis. ejection-ssy murmur in right upper sternal border radiating to neck and carotids
short, LD, friendly
Webbed neck
Pectus excavatum
Short stature in
a boy
AF heart?
nooan
AF: pulmonary stenosis -crescendo decrescendo systolic murmur at left upper sternal border
Macrocephaly
Long face/ large head
Large ears, large testicles, with LD
fragile X
Pansystolic murmur in lower left sternal border
VSD
Ejection systolic murmur in the upper left sternal border
pulmonary stenosis
Crescendo-decrescendo murmur in the upper left sternal border
CoA
trisomy 13?
patau-Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
trisomy 18?
edward’s - edward wont make it till 18
AF with cystic fibrosis?
resp infections likely to colonise? proph?
short stature
diabetes mellitus
delayed puberty
rectal prolapse (due to bulky stools)
nasal polyps
male infertility, female subfertility
pseudomonas - tx ciprofloc, Staph A (fluclox proph)
Which conditions are passed only through maternal line?
all maternal children will inherit this disease
mitochonidal diseases -
muscle biopsy classically shows ‘red, ragged fibres’ due to increased number of mitochondria
Examples include:
Leber’s optic atrophy
MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
MERRF syndrome: myoclonus epilepsy with ragged-red fibres
Kearns-Sayre syndrome: onset in patients < 20 years old, external ophthalmoplegia, retinitis pigmentosa. Ptosis may be seen
sensorineural hearing loss
complications of measles?
most common?
common cx of death?
presents 2 weeks after?
pesentation
otitis media: common
pneumonia: common cx of death
encephalitis: typically occurs 1-2 weeks following the onset of the illness)
subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness
febrile convulsions
keratoconjunctivitis, corneal ulceration
diarrhoea
increased incidence of appendicitis
myocarditis
sx: conjunctivits, koblick spots, rash behind ear to body
congenital adrenal hyperplasia what is it?
defect in what? causes?
sx in female?
defect in 21-hydroxlase so pogesterone can not
convert into aldosterone/ cortisol. its converted into testosterone. low aldosterone, high testosterone, low cortisol.
Autosomal recessive
sx: ambiguous genetalia (large clit), tall facial hair, no periods, early puberty, deep voice
male: large penis, small testicles tall, deep voice
tx: C/S and fludrocorisone
2-3 weeks after tonsilitis, fever, joint pain migrating, red rash, SOB, chorea, nodules?
dx? type of hypersensitivity?
most notable cardiac complication?
GaBS - strep causing rheumatic fever.
pyogenes - tonsilitis
T2 hypersensitivity. 2 -3 weeks after
DX: ASO (anti- streptococcal antibodies) peak at 3-6 weeks. repeat after 2 weeks
criteria: JONES FEAR
mitral stenosis
JONES FEAR dx of rheumatic fever?
Major Criteria:
J – Joint arthritis
O – Organ inflammation, such as carditis
N – Nodules
E – Erythema marginatum rash
S – Sydenham chorea
Minor Criteria:
Fever
ECG Changes (prolonged PR interval) without carditis
Arthralgia without arthritis
Raised inflammatory markers (CRP and ESR)
examphalos vs gastroschisis?
Gastroschisis - ant abdo wall alteral to umbicilic chord. surgery asap. attempt vaginal
examphalos - contents covered by amniotic sac. AF: cardiac and kidney malformations, down’s. do C-section
small head, flattened philtrum and thin upper lip.
fetal alcohol syndrome
scarlet fever presentation?
cx?
tx?
school exclusion?
common complication?
4YO with sore throat, strawberry tongue 2 day fever sandpaper rash, peeling. rash spares around mouth
cx: group a streptococci (pyogenes)
TX: pen V/ azithromycin. return to school 24 hrs after starting abx.
risks: ottitis media, rheumatic fever (20 days after ifnection), GN (10 days), nec fasc, meng
complications of chicken pox?
secondary infection (NSAIDS increase risk, common), penumonia, enceph, disseminated haemorrhagic, oancreatitis, nephritis arthritis
6 months - 2 YO with fever THEN A RASH
Cx?
risk?
roseola infantum =- HHV 6nagayama spots on uvula and soft palate, diarrhoea an cough
risks with hhv6: hepatitis, asceptic meng
triad of shaken baby syndrome?
retinal haemorrhages, SDH, encephalopathy
MMR vaccine - if child wants to be vaccinated over 10 YO?
CI?
normally have at 12-15 months then 2-4 yrs
<10YO = give 3 months apart
if 10+ giv1 month apart
CI:severe immunosuppression
allergy to neomycin
another live vaccine by injection within 4 weeks
no pregnancy 1 month after
immunoglobulin therapy within the past 3 months
kawasaki predome
risks?? what imaging?
5 days+ fever,
bright cracked lips
red eyes, strawberry tongue
cervical LN, red hands and feet that peel.
do ech - coroonary artery aneurysms
tx aspirin
whooping cough vaccine/ tx?
pregnant women?
school exclusion with abx/ without?
is there household proph?
2,3,4 months and 4-5 yrs.
give pregnant women 16-32 G
tx: macrogrlide azithromycin 21 days. exclude from 21 days of sx if no abx or go to school after 48 hrs of starting. give household proph
Rash: pink maculopapular, initially on face before spreading to whole body, usually fades by the 3-5 day
Lymphadenopathy: suboccipital and postauricular
Rubella
trinucleotide repeat disorders? with anticipation? (increased severity of symptoms with generation)
Fragile X (CGG)
Huntington’s (CAG)
myotonic dystrophy (CTG)
spinocerebellar ataxia
spinobulbar muscular atrophy
autosomal dominant conditions?
Achondroplasia
Acute intermittent porphyria
Adult polycystic disease
Antithrombin III deficiency
Ehlers-Danlos syndrome
Familial adenomatous polyposis
Hereditary haemorrhagic telangiectasia
Hereditary spherocytosis
Hereditary non-polyposis colorectal carcinoma
Huntington’s disease
Hyperlipidaemia type II
Hypokalaemic periodic paralysis
Malignant hyperthermia
Marfan’s syndromes
Myotonic dystrophy
Neurofibromatosis
Noonan syndrome
Osteogenesis imperfecta
Peutz-Jeghers syndrome
Retinoblastoma
Romano-Ward syndrome
tuberous sclerosis
Von Hippel-Lindau syndrome
Von Willebrand’s disease*
