Dysmorphia Flashcards
How many live births are T21 babies?
1 in 650
How is Down syndrome screened for in the antenatal period?
COMBINED SCREENING: Nuchal translucency and bloods at the 12 week scan
Is given a ‘high-risk’ or ‘low risk’ result. If high risk is offered amniocentesis or CVS
What are some characteristic features of Down Syndrome?
Round face and flat nasal bridge Upslanted palpebral fissures Epicanthic folds Brushfield spots in the eye Small mouth and protruding tongue Small ears Flat occiput and third fontanelle Short neck Single palmar crease Sandal gap Hypotonia Congenital heart defects (AVSD) Hirschsprung's disease
What sorts of things should you cover when counselling a parent with a child with T21?
- 85% children make it past 1st year of life, 505 now live to 50 years and beyond
- Down syndrome is on a spectrum, some are more severely affected than others. We will have to wait and see how affected your child is
- In the first instance it is important to rule our cardiac abnormalities - key life-threatening abnormality
- Forewarn about later medical problems
What are some of the later medical problems associated with T21?
Delayed motor milestones due to hypotonia
Moderate to severe learning difficulties
Small stature
Increased susceptibility to infection
Hearing and visual impairment (secretory otitis media, cataracts)
Increased risk of malignancy
Risk of atlanta-axial instability
Increased risk of hypothyroid and coeliac
Epilepsy
Alzheimer’s disease
What is the likelihood of reoccurrence of Down Syndrome?
1 in 200 if <35yo
Mother of 40 has 1 in 100 chance
Mother of 45 has 1 in 50 chance
What genetic abnormality causes CF what are some early features?
Fdelta508 mutation on chromosome 7
Tested for in the Guthrie card test - immunoreactive trypsinogen
Failure to pass meconium can occur
Sweat test can be done to confirm
Also problems with absorption might lead to failure to thrive
RESP FEATURES: dyspnoea, recurrent infections, hyperinflation, coarse inspiratory crackles, expiratory wheeze
What chloride concentration in the sweat test is diagnostic of CF?
60-125mmol/L
How will CF be managed once detected?
Referral to MDT for discussion
Prophylactic abs - fluclox - usually given via PICC line
Physiotherapy given twice a day
Nebulised DNAase and hypertonic saline
Nutritional management - 150% intake of normal - high in fats (NGT feed over night) - feeding via gastrostomy
What is the typical picture of a child with William’s syndrome?
A boy with learning difficulties who is extremely friendly and extroverted and comfortable in the company of adults
Also has supra-ventricular aortic stenosis
What are some examples of sex-linked conditions?
Fragile X
DMD
Haemophilias
What are some examples of autosomal recessive conditions?
Tend to me METABOLIC CONDITIONS PKU Haemochromatosis Cystic fibrosis Exception - inherited ataxias
What are some examples of autosomal dominants conditions?
Tends to be STRUCUTAL conditions
- Familial adenomatous polyposis
- Achondraplasia
- Marfan’s
- Huntington’s disease
- Ehlers-Danlos
- Exception: Gilbert’s and hyperlipidaemia
What are the chromosomes of Turners?
What are some presenting features of Turner’s syndrome?
Specifically cardiac?
45XO=Turners
- Lymphoedema of hands and feet
- Spoon shaped nails (also with B12 def)
- Short stature - cardinal feature and often reason for presentation
- Neck webbing
- Low set ears
- Low hairline
- Shield chest
- Widely spaced nipples
- Wide carrying angle
- Pigmented moles
Cardiac
- bicuspid aortic valve most common
- coarctation of aorta
- Aortic root dilatation
What is Edward’s syndrome and what are some clinical features?
Trisomy 18 Low birth weight Prominent occiput Small mouth and chin (micrognathia) Low set ears Rocker bottom feet Short sternum Flexed, overlapping fingers Cardiac and renal abnormalities
