NR 507 Week 8 Discussion genetic disorder.
NR 507 Week 8 Discussion genetic disorder.
You are contacted by an attorney representing a client who has
been charged with child abuse and whom faces loss of her child
and 15 years in prison. The record indicated that the child was 4
years old and presented to the ER room with a broken arm and a
broken leg. There also appeared to be multiple previous fractures.
Now, you examine the child and find blue sclera, a sunken chest
wall, severe scoliosis, and you observe a triangular face and
prominent forehead. You confirm that there have been multiple
previous fractures by evaluating the previous X-rays. This is a
genetic disorder.
What is the most likely genetic disease that this presents and
why?
What is the molecular basis of this disease?
Before, calling the police what should the initial clinician have
done?
PART No 2:
Johnny is a 5-year-old Asian boy who is brought to a family
practice office with a “runny” nose that started about 1 week ago
but has not resolved. He has been blowing his nose quite
frequently and “sores” have developed around his nose. His
mother states, “The sores started as ‘big blisters’ that rupture;
sometimes, a scab forms with a crust that looks like “dried maple
syrup” but continues to seep and drain.” She is worried because
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