congentical syndromes Flashcards by L P

upslanting palpebral fissures, epicanthic folds, small low-set ears and a round face?

Down’s syndrome

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tall stature, arm span to height ratio > 1.05, high-arched palate and pectus excavatum.

MArfans - autosomal dominant connective tissue disorder

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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

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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%)

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lymphodeama in neonate?

turners

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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,

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systolic murmur in the left infraclavicular area and under the left scapula

CoA - turners

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duchenne heart complication?

dilated CMP

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47XXY

klinfelters

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46XY

androgen insensitivity

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DX with buccal smear, risk of tesicular cancer , low test, high LH

androgen insensitivty

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An infant is found to have small eyes and polydactyly, microcephaly, cleft lip and palate. with scalp lesion

patau syndrome. trisomy 13

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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

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Webbed neck
Pectus excavatum
Short stature in
a boy

AF heart?

nooan

AF: pulmonary stenosis -crescendo decrescendo systolic murmur at left upper sternal border

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Macrocephaly
Long face/ large head
Large ears, large testicles, with LD

fragile X

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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*