TRISOMY 21- DOWN SYNDROME. Dr. Gupta PL-II. Incidence. Approximately one in 1000 live births. Genetics. Trisomy 21 (47, +21), - 94 %, The frequency of trisomy increases with increasing maternal age.
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Approximately one in 1000 live births.
Up-slanting palpebral fissures
Flat nasal bridge
Folded or dysplastic ears
Excessive skin at the nape of neck
Short fifth finger
Incurved fifth finger
Transverse palmer crease
Space between first and second toe
Hyper flexibility of jointsClinical Features
Most common disorders are
Refractory error – 35 to 76 percent
Strabismus – 25 to 57 percent
Nystagmus – 18 to 22 percent
Cataract occur in 5 % of newborns.
Frequency increases with age.
- It is asymptomatic with spontaneous resolution in 2-3 months.
- Vesiculopustular skin eruptions are common and resolve with disorder.
1. Growth – Measurements should be plotted on the appropriate growth chart for children with DS.
2. Cardiac disease – All newborns should be evaluated by cardiac ECHO for CHD in consultation with pediatric cardiologist.
3. Hearing – Screening to be done in the newborn period, every 6 months until 3 yrs of age and then annually.
4. Eye disorders - An eye exam should be performed in the newborn period or at least before 6 months of age to detect strabismus, nystagmus, and cataracts.
5. Thyroid Function – Should be done in newborn period and should be repeated at six and 12 months , and then annually.
6. Celiac Disease – Screening should begin at 2 yrs. Repeat screening if signs/Sx develop.
Median age of death has increased from 25 yrs in 1983 to 49 yrs in 1997, an average of 1.7 yrs increase per year.
Most likely cause of death is CHD, Dementia, Hypothyroidism and Leukemia.
Improved survival is because of increased placements of infants in homes and
changes in treatment for common causes of death.
Survival is better for males and blacks.