unusual appearance Flashcards
1
Q
what is the risk of downs syndrome
A
1:600-800. risk increases to 1:20 when other >45yrs
trisomy 21
2
Q
what are CF of DS
A
hypotonia no head control single palmar crease upslanting palpebral fissue microcephaly, 3rd fontanelle lowset ears flat nasal bridge prominant epicanthal folds AVSD/VSD duodenal atresia, hirschprung undecended testis
3
Q
what screening is available for DS
A
combined first trimester screen
11-13+6wks
bHCG + PAPP-A + nuchal translucency
if risk >1:300 = high risk and diagnostic test should be perfromed
- chorionic villous sampling 12-14wks
- amniocentisis 15wks
4
Q
associations of DS
A
- cardiac: AVSD, arrhythmia, HF
- infections
- early onset AD
- 1% lifetime chance of leukaemia
- sleep apnoea
- obesity
- behavioural problems
- duodenal atresia, HSD
- hypothyroidism
- II
- deafness
- cataracts
- developmental hip dysplasia
5
Q
management of DS
A
multidisciplinary
- echo
- yearly TFTs
hearing test, opthalmology
6
Q
Edwards syndrome
A
trisomy 18
- microcephaly, cleft palate, polydactyly, rocker bottom feet
prog: only 10% survive past 1yr
severe II
7
Q
Patau syndrome
A
trisomy 13
- cleft palate, small eyes, microcephaly, growth retardation, cardiac defects
prog: 90% die by 1yr
8
Q
Prader-willi
A
defect 15q11-13
- obesity
- hypotonia
- hyperphagia
- hypogonaism
9
Q
turner
A
45XO females only webbed neck shield chest wide spaced nipples CHD lymphadema of hands and feet prog: mild/normal II
10
Q
klinefelters
A
47XXY, 48XXXY, 49XXXXY males only tall, slim, long limbs gynaecomastia, no facial hair infertile psychiatric/behavioural problems
11
Q
fragile x
A
CGG repeat on x chromosome
large - jaw, forehead, ears, testes, high arch palate
seizures, scoliosis, MVP
