Chapter·PediatricsCongenital defects

Long-term outcomes and follow-upDownloads

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1

A 42-year-old woman presents to the emergency department in active labor. She has had no prenatal care and is unsure of the gestational age. Labor progresses rapidly and spontaneous vaginal delivery of a baby boy occurs 3 hours after presentation. On initial exam, the child is 1.9 kg (4.2 lb) with a small head and jaw. A sac-like structure containing intestine, as can be seen in the picture, protrudes from the abdominal wall. What complication is closely associated with this presentation?

ALack of abdominal wall muscles

BDehydration and necrosis of bowel

CDuodenal atresia

DTwisting of the bowel around itself

ECardiac defect

2

A 14-year-old girl is brought to the physician because she frequently experiences cramping and pain in her legs during school sports. She is at the 10th percentile for height. Her blood pressure is 155/90 mm Hg. Examination shows a high-arched palate with maloccluded teeth and a low posterior hairline. The patient has a broad chest with widely spaced nipples. Pelvic examination shows normal external female genitalia with scant pubic hair. Without appropriate treatment, this patient is at the greatest risk of developing which of the following complications?

AAlzheimer disease

BHyperphagia

CPulmonary stenosis

DOsteoporosis

ESevere acne

3

A 15-month-old boy is brought to the pediatrician for immunizations and assessment. His parents report that he is eating well and produces several wet diapers every day. He is occasionally fussy, but overall a happy and curious child. The boy was born at 39 weeks gestation via spontaneous vaginal delivery. On physical examination his vital signs are stable. His weight and height are above the 85th percentile for his age and sex. On chest auscultation, the pediatrician detects a loud harsh holosystolic murmur over the left lower sternal border. The first and second heart sounds are normal. An echocardiogram confirms the diagnosis of the muscular ventricular septal defect without pulmonary hypertension. Which of the following is the best management strategy for this patient?

ASurgical closure of the defect using cardiopulmonary bypass

BReassurance of the parents and regular follow-up

COral digoxin and regular follow-up

DAntibiotic prophylaxis against infective endocarditis

ETranscatheter occlusion closure of the defect

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