(2)
Marked hypotonia and floppiness.
(3)
Joint hyperextension or hyperflexibility.
(4) Tendency to keep mouth open with his tongue protruding, high arched
palate, and furrowed tongue.
(5)
Eyes slant upwards and outward with internal epicanthal folds.
(6)
Flattened nasal bridge and flat facial profile.
(7)
Small ears, often incompletely developed, low set.
(8)
Single transverse palmar crease-simian crease.
Figure 11-4. Clinical features of Down's syndrome.
c. Diagnosis.
(1)
(2) Karyotype (chromosomal analysis). This will show how the third
chromosome, number 21, is attached to another autosome in terms of location or
nondisjunction.
(3)
Amniocentesis.
d. Treatment. There is no known cure for Down's syndrome. Surgery is
available to correct heart defects and other congenital abnormalities. Antibiotic therapy
for recurrent infections is also available.
MD0922
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