Pediatrics
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
|
|
||||
|---|---|---|---|---|---|
| MR, hypertonia, tremors, light complexion/hair, eczema, mousy urine = | PKU
🗑
|
||||
| PKU dx is confirmed by: | Hyperphenylalanemia in presence of normal / decreased plasma tyrosine
🗑
|
||||
| Meconium ileus at birth, FTT, respiratory infections, steatorrhea = | Cystic fibrosis
🗑
|
||||
| CF mgmt | Airway clearance therapy, inhaled mucolytics (recombinant DNAse), antipseudomonal Abx, pancreatic enzyme & vitamin ADEK supplementation
🗑
|
||||
| MR (IQ 20-80), brachycephaly, dysplastic pinnae, upslanting palpebral fissures, hypotonia = | Down syndrome (trisomy 21)
🗑
|
||||
| Trisomy 18 clinical features | Hypertonicity. Dysmorphic facies (prominent occiput, micrognathia, cleft palate). ASD & PDA. Rocker bottom feet, clinodactyly.
🗑
|
||||
| Trisomy 13 prognosis | Usually associated with abnormalities incompatible with life. Infants often succumb to PNA or CHF in first 1-2 years.
🗑
|
||||
| Trisomy 13 clinical features | Microcephaly. Omphalocele. PKD. Radial bone aplasia. Polydactyly.
🗑
|
||||
| Trianglular facies, coarctation of aorta, webbed neck, peripheral edema = | Turner syndrome (XO monosomy; 1:10,000 female live births)
🗑
|
||||
| Males with micro-orchidism, gynecomastia, azoospermia = | Klinefelter (XXY). 1:1,000 live male births.
🗑
|
||||
| Behavioral abnormalities, prolonged ears & jaw with oblong face, macro-orchidism = | Fragile X syndrome (mutation of FMR1 gene)
🗑
|
||||
| Vit D def / Rickets: genetics | X-linked dominant
🗑
|
||||
| Hemophilia A, Duchennes MD: genetics | X-linked Recessive
🗑
|
||||
| Neurofibromatosis: genetics | Autosomal dominant
🗑
|
||||
| Sickle cell, CF, PKU: genetics | Autosomal Recessive
🗑
|
Review the information in the table. When you are ready to quiz yourself you can hide individual columns or the entire table. Then you can click on the empty cells to reveal the answer. Try to recall what will be displayed before clicking the empty cell.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Created by:
Abarnard
Popular Medical sets