Genetics
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16 Questions
Most recently added
added last month.
created by Michelle Bischoff.
An 7-year-old boy with Hunter syndrome is brought into hospital to receive IV enzyme replacement therapy. You are a student intern about to see him prior to his infusion. You might expect to find all of the following upon physical examination EXCEPT:
An 7-year-old boy with Hunter syndrome is brought into hospital to receive IV enzyme replacement therapy. You are a student intern about to see him prior to his infusion. You might expect to find all of the following upon physical examination EXCEPT:
added 25 months ago.
created by Juliana.
Neurofibromatosis Type 1 (NF1) is characterized by multiple cafe au lait spots and associated cutaneous findings of neurofibromas, plexiform neurofibromas and axillary or inguinal freckling. Pateints with this condition are also at increased risk for optic glioma, osseous lesions and learning dis...
Neurofibromatosis Type 1 (NF1) is characterized by multiple cafe au lait spots and associated cutaneous findings of neurofibromas, plexiform neurofibromas and axillary or inguinal freckling. Pateints with this condition are also at increased risk for optic glioma, osseous lesions and learning dis...
added 25 months ago.
created by Juliana.
2
acclamations.
Which of the following is not one of the most common anomalies of CHARGE association?
Which of the following is not one of the most common anomalies of CHARGE association?
added 25 months ago.
created by Juliana.
Which of the following is not a common potential health issue that needs to be addressed in patients with Turner syndrome as they age?
Which of the following is not a common potential health issue that needs to be addressed in patients with Turner syndrome as they age?
added 25 months ago.
created by Juliana.
You are about to go see an 8 year old patient with Turner Syndrome. Which of the following would you not expect to find on physical exam?
You are about to go see an 8 year old patient with Turner Syndrome. Which of the following would you not expect to find on physical exam?
added 25 months ago.
created by Juliana.
An infant is born with the following characteristics: 1. Large for gestational age 2. Omphalocele 3. Visceromegaly 4. Macroglossia 5. Ear creases and pits You suspect a diagnosis of Beckwith-Wiedemann Syndrome. What associated condition should be evaluated and treated promptly?
An infant is born with the following characteristics: 1. Large for gestational age 2. Omphalocele 3. Visceromegaly 4. Macroglossia 5. Ear creases and pits You suspect a diagnosis of Beckwith-Wiedemann Syndrome. What associated condition should be evaluated and treated promptly?
1 Case
Dysmorphic features
added 22 months ago. created by Lauren Kitney.
You are a third year medical student completing a neonatology elective. One of your patients is a 15 day old infant named Julie who was born at 37...
added 22 months ago. created by Lauren Kitney.
You are a third year medical student completing a neonatology elective. One of your patients is a 15 day old infant named Julie who was born at 37...