Which congenital disorder is described by two or more major defects, including cardiac defects, abdominal wall defects, ectopia cordis, and diaphragmatic hernia?

Which congenital disorder is described by two or more major defects, including cardiac defects, abdominal wall defects, ectopia cordis, and diaphragmatic hernia?

• A. Pentalogy of Cantrell
• B. Amniotic band syndrome
• C. Limb body wall complex
• D. Beckwith-Wiedemann syndrome

Answer: (A)

Cantrell's pentalogy is a rare constellation of ventral midline defects. It classically includes an anterior abdominal wall defect (often an omphalocele), a lower sternal defect, an anterior diaphragmatic defect with possible diaphragmatic pericardial involvement, intracardiac anomalies, and frequently ectopia cordis. When you see two or more major defects that include a cardiac defect, an abdominal wall defect, ectopia cordis, and a diaphragmatic hernia, this combination best fits Cantrell's pentalogy. Amniotic band syndrome can cause diverse defects but not this specific, consistent pattern. Limb body wall complex involves ventral wall defects with limb anomalies and is a broader pattern. Beckwith-Wiedemann syndrome includes omphalocele and overgrowth features but does not typically present with ectopia cordis and the characteristic diaphragmatic and pericardial/heart defects seen in Cantrell's pentalogy.

Cantrell's pentalogy is a rare constellation of ventral midline defects. It classically includes an anterior abdominal wall defect (often an omphalocele), a lower sternal defect, an anterior diaphragmatic defect with possible diaphragmatic pericardial involvement, intracardiac anomalies, and frequently ectopia cordis. When you see two or more major defects that include a cardiac defect, an abdominal wall defect, ectopia cordis, and a diaphragmatic hernia, this combination best fits Cantrell's pentalogy.

Amniotic band syndrome can cause diverse defects but not this specific, consistent pattern. Limb body wall complex involves ventral wall defects with limb anomalies and is a broader pattern. Beckwith-Wiedemann syndrome includes omphalocele and overgrowth features but does not typically present with ectopia cordis and the characteristic diaphragmatic and pericardial/heart defects seen in Cantrell's pentalogy.