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14 Cards in this Set
- Front
- Back
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Common features of Patau syndrome? |
Patau syndrome = trisomy 13 1.) Microcephalic, with small eyes 2.) Cleft lip/palate 3.) Polydactyly 4.) Scalp lesions (Rocker bottom feet may be seen at birth) |
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Common features of Edward's syndrome? |
Edward's syndrome = trisomy 18
1.) Micrognathia (small jaw, so teeth don't align properly. may present as 'small chin') 2.) Low-set ears 3.) Rocker bottom feet 4.) Overlapping of fingers |
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Common features of Fragile X? |
1.) Learning difficulties 2.) Macrocephaly 3.) Long face 4.) Large ears 5.) Macro-orchidism |
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Common features of Noonan's syndrome? |
1.) Webbed feet
2.) Pectus excavatum 3.) Short stature 4.) Pulmonary stenosis |
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Common features of Pierre-Robin syndrome? |
1.) Micrognathia 2.) Posterior displacement of the tongue (may result in upper airway obstruction) 3.) Cleft palate |
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Common features of Prader-Willi syndrome? |
1.) Hypotonia
2.) Hypogonadism 3.) Obesity (At birth - very floppy, difficult to feed (high-arched palate, small in size, pointy fingers ('tapering, delicate'). Then later gains mega weight) |
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Common features of William's syndrome? |
1.) Short stature
2.) Learning difficulties 3.) Friendly, extrovert personality 4.) Transient neonatal hypercalcaemia 5.) Supra-valvular aortic stenosis |
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It is worth noting that Pierre-Robin syndrome shares many of its features with a different syndrome, called ... |
Treacher-Collins syndrome One of the key differences is that Treacher-Collins is autosomal dominant, so there is usually a family history of similar problems. |
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A 2-week-old infant with a small chin, posterior displacement of the tongue and cleft palate. Most likely diagnosis? |
Pierre-Robin syndrome |
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Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties. Most likely diagnosis? |
William's syndrome |
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A 9-week-old is noted to have a small chin and rocker-bottom feet. Most likely diagnosis? |
Edward's syndrome (Rocker-bottom feet may also be seen in Patau syndrome but when seen in combination with micrognathia Edward's syndrome is the most likely diagnosis) |
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A 35 year old pregnant woman is at what risk of having a child with Down's syndrome? 1.) 1 in 125 2.) 1 in 270 4.) 1 in 1000 |
1 in 270 |
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What later complications can come about in an adult with Down's syndrome? |
Subfertility (males almost always infertile due to impaired spermatogenesis. Females usually subfertile, & have problems in labour and pregnancy) Repeated respiratory infections (+hearing impairment from glue ear) Acute lymphoblastic leukaemia Hypothyroidism; Alzheimer's disease Atlantoaxial instability |
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What are potential causes for obesity in children? (Some causes are syndromes, some are diseases) |
Growth hormone deficiency Hypothyroidism Down's syndrome Cushing's syndrome Prader-Willi syndrome |
