Block 2 Case 15

1. A father and his 15 year old daughter present to you with a chief complaint of primary amenorrhea. In addition, the young prepubescent woman also complains of changes in her toes she has never brought up before.

Upon inspection:

Upon seeing her toes, your clinical suspicion leads you to order a number of tests, including a lateral magnetic resonance angiography of the the thorax. 

MRA Result:

a. What is your suspected etiology of the clubbing and cyanosis complaint by your 15 year old patient?

b. Which genetic abnormality is associated with the above etiology?

c. Of the clinical symptoms listed below, what five are associated with this genetic abnormality. 

-Tracheoesophageal fistula

-Endocardial cushion defect 

-Short stature

-Lactose intolerance 

-Decreased estradiol and progesterone

-Increased incidence in younger mothers

-History of duodenal atresia at birth

-Heterochromia 

-Panhypopituitarism

-Streak gonads

-Renal failure 

- Increased FSH and LH

-Increased incidence of cystic fibrosis

-Cystic Hydroma