Posted by sam on July 10, 2001 at 21:43:13:
a. thyroid function tests
b. x-ray skull
c. karyotyping
d. ct scan head
e. serum methionine
f. serum uric acid
g. urine for phenyl alanine metabotiyes
h. urine glucos
i. x-ray of both hands
1. a 4 yr old boy presents with mental retardation ,flat faces and protruding tounge. he is hypotonic and has a oblique palprable fissure. hia mothers age is 42.
2. a 2yr old girl presents with mentalretardation and short stature. she is lethargic,hypotonic and the anterior frontanella is open.
3. a 9mt old previously healthy baby presents with delayed mile stones and convulsion . you note the baby has blonde hair and eczematous changes in the skin.
4. a 2yr old girl presents with delayed mile stones, convulsion and subluxation of lens. her digits are long and narrow.
5. a 2yr old mentally retarded child presents with choreo-athetosis and self mutilation
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