USMLE Forum Archives - USMLE Step 1 - Pathology 14
Pathology 14
TheOne - 10-12-06 14:34
A baby is born with a flat facial profile, prominent epicanthal folds, and simian crease. She vomits when fed, and upper GI studies demonstrate a "double bubble" in the upper abdomen. Which of the following cardiovascular abnormalities might this child also have?
A. Atrial septal defect
B. Berry aneurysm
C. Coarctation of the aorta
D. Endocardial cushion defect
E. Tetralogy of Fallot
TheOne - 10-12-06 14:34
A baby is born with a flat facial profile, prominent epicanthal folds, and simian crease. She vomits when fed, and upper GI studies demonstrate a "double bubble" in the upper abdomen. Which of the following cardiovascular abnormalities might this child also have?
A. Atrial septal defect
B. Berry aneurysm
C. Coarctation of the aorta
D. Endocardial cushion defect
E. Tetralogy of Fallot
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#2
Re: Pathology 14
TheOne - 10-14-06 16:01 Explanation: The correct answer is D. The disease is Down syndrome (trisomy 21). In addition to mental retardation and the characteristic physical findings described in the question stem, duodenal atresia is fairly common, as evidenced by the "double bubble" sign on x-ray. These children are also likely to have various cardiac anomalies; endocardial cushion defect is the most common. Atrial septal defect (choice A) is one of the most common genetic defects in the general population, but is less common than endocardial cushion defect in patients with Down syndrome. Berry aneurysms (choice B), also known as saccular aneurysms, are typically located in the circle of Willis on the ventral surface of the brain. They occur more frequently in patients with adult polycystic disease. Rupture can produce subarachnoid hemorrhage. Coarctation of the aorta (choice C) occurs more commonly in females with a 45, XO genotype (Turner syndrome). Tetralogy of Fallot (choice E) is the most common cause of early cyanosis, consisting of a ventricular septal defect, right ventricular outflow tract obstruction, an overriding aorta, and right ventricular hypertrophy.
#3
Re: Pathology 14 galaxy - 05-27-10 19:08 A baby is born with a flat facial profile, prominent epicanthal folds, and simian crease. She vomits when fed, and upper GI studies demonstrate a "double bubble" in the upper abdomen. Which of the following cardiovascular abnormalities might this child also have?
D. Endocardial cushion defect
#4
Re: Pathology 14 babbu5508 - 06-21-10 14:54 "double bubble" in the upper abdomen..S/O duodenal atresia..likely to be down's syndrome and hence likely to be associated with endocardial cushion defects
#5
Re: Pathology 14 bingousmle - 06-30-10 22:28 DOWNS syndrome is likely present in this child as she has flat facial profile, prominent epicanthal folds, and simian crease vomits when fed, and upper GI studies demonstrate a "double bubble" in the upper abdomen.
ENDOCARDIAL CUSION DEFECTS
#8
Re: Pathology 14 babbu5508 - 09-24-10 06:49 the child has down's syndrome by her features..they are at increased risk of having duodenal atresia, enocardial cushion defects, leukaemia, AD.
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