Revision - Down's Flashcards
Epicathic folds vs palpebral fissures?
Epicanthal folds –> folds of skin covering the medial portion of the eye and eyelid.
Palpebral fissure –> gaps between the lower and upper eyelid.
Characteristic features of Down’s syndrome?
1) Face:
- upslanting palpebral fissures
- prominent epicanthal folds
- Brushfield spots in iris
- protruding tongue
- small, low-set ears
- round/flat face
2) Flat occiput
3) Single palmar crease
4) Hypotonia
5) Congenital heart defects
6) Duodenal atresia
7) Hirschsprung’s disease
What is risk of Down’s syndrome in maternal age of ≥45 y/o?
1 in 50 or greater
What is risk of Down’s syndrome in maternal age of 20 y/o?
1 in 1500
What is the most common mutation causing Down’s syndrome?
No-disjunction (94%)
What is non-disjunction?
The failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during nuclear division, usually resulting in an abnormal distribution of chromosomes in the daughter nuclei.
What translocation can result in Down’s syndrome?
Robertsonian translocation
How is fertility impacted in Down’s (in males vs females)?
Males - almost always infertile
Females - usually subfertile
What is a very common condition resulting in hearing problems in people with Down’s?
OM w/ effusion & glue ear
When does the combined test take place?
11-13+6 weeks
What does the combined screening test for Down’s test consist of?
1) maternal hCG
2) maternal PAPP-A
3) nuchal translucency
What does the triple test for Down’s consist of?
1) hCG
2) AFP
3) oestriol
When can the triple & quadruple tests be performed?
14-20 weeks
What does the quadruple test for Down’s consist of?
1) b-HCG
2) AFP
3) serum oestriol
4) inhibin-A
The screening tests provide a risk score for the fetus having Down’s syndrome.
When are women offered further tests?
If risk if ≥1 in 150
What 3 further tests can be offered to women with high risk for Down’s?
1) Chorionic villus sampling (CVS)
2) Amniocentesis
3) Non-invasive prenatal testing (NIPT)
What does chorionic villus sampling involve?
US guided biopsy of placenta
What does amniocentesis involve?
US guided biopsy of placental fluid
What are the 3 key classic physical features of Turner’s syndrome to look out for in exams?
1) Short stature
2) Webbed neck
3) Widely spaced nipples
What arm abnormality may be seen in Turner’s?
Cubitus valgus
What is cubitus valgus?
The angle of the forearm at the elbow is exaggerated, angled away from the body.
What is the most common renal abnormality in Turner’s?
Horseshoe kidney
(When two kidneys are fused or joined together. They form a shape like a horseshoe).
What are some associated conditions with Turner’s syndrome?
1) recurrent OM
2) recurrent UTIs
3) coarctation of aorta
4) hypothyroidism
5) HTN
6) obesity
7) diabetes
8) osteoporosis
What can be given in Turner’s to help establish female 2ary sex characteristics and regulate the menstrual cycle?
oestrogen & progesterone replacement
