CLIPP 29: 9 week with hypotonia Flashcards
How many generations should a pediatric history cover/
3
Common PE findings in patients with Downs syndrome
Upslanting palpebral fissures
Small ears (usually less than 34 mm at maximum dimension in a term infant)
Flattened midface
Epicanthal folds
Redundant skin on back of neck (nuchal skin)
Hypotonia (most consistent finding in infants with Down syndrome)
Standard diagnostic technique for diagnosis of Downs syndrome?
Lymphocyte karyotype remains the standard for the laboratory diagnosis of Down syndrome
Infants with downs are more likely to have what endocrine/metabolic disorder?
Hypothyroidism
Why is an annual H&H required in Downs babies beginning at age 1?
Screen for iron deficiency anemia, as they tend to take in less iron than their peers
Do Downs kids always need to be sent to a peds cardiologist?
Yes- they have >50% likelihood of structural heart disease
Why are CBCs done on downs kids within the first month of life?
Assess for leukimoid reactions or transient myeloproliferative disorders
What is Fragile X ?
X-linked disease caused by the inheritance of an abnormal number of CGG repeats in the FMR1 gene
These physical features are associated with what?
long face with a large mandible
large, prominent ears
large testicles (after puberty)
Fragile X Syndrome
Downs syndrome kids are at increased risk of which malignancy?
Leukemia
Most common structural heart defect in downs?
Approximately 50% of children with Down syndrome are born with endocardial cushion defects, such as ventricular septal defect, atrial septal defect, or complete atrioventricular canal defect.
