Which syndrome is associated with diaphragmatic hernia and ectopia cordis as part of its presentation?

Which syndrome is associated with diaphragmatic hernia and ectopia cordis as part of its presentation?

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

Answer: (A)

This question tests recognizing a specific cluster of ventral wall defects known as Pentalogy of Cantrell. In this condition, several midline anterior structures fail to form and fuse properly, producing a characteristic set of defects that can include a lower sternum anomaly, an anterior abdominal wall defect, a diaphragmatic hernia, a pericardial defect, and intracardiac abnormalities. Importantly, the heart may be partially or completely outside the chest in some cases, which is described as ectopia cordis. That combination of diaphragmatic hernia with ectopia cordis is a classic feature of Cantrell’s pentad. The other listed conditions involve different patterns of malformation. Amniotic band syndrome causes variable limb and body-wall defects from constriction by amniotic bands; limb-body wall complex presents as a severe, large ventral body wall defect with limb anomalies; Meckel-Gruber syndrome includes features like occipital encephalocele, polydactyly, and cystic kidneys. None of these characteristically pair diaphragmatic hernia with ectopia cordis as Cantrell’s does.

This question tests recognizing a specific cluster of ventral wall defects known as Pentalogy of Cantrell. In this condition, several midline anterior structures fail to form and fuse properly, producing a characteristic set of defects that can include a lower sternum anomaly, an anterior abdominal wall defect, a diaphragmatic hernia, a pericardial defect, and intracardiac abnormalities. Importantly, the heart may be partially or completely outside the chest in some cases, which is described as ectopia cordis. That combination of diaphragmatic hernia with ectopia cordis is a classic feature of Cantrell’s pentad.

The other listed conditions involve different patterns of malformation. Amniotic band syndrome causes variable limb and body-wall defects from constriction by amniotic bands; limb-body wall complex presents as a severe, large ventral body wall defect with limb anomalies; Meckel-Gruber syndrome includes features like occipital encephalocele, polydactyly, and cystic kidneys. None of these characteristically pair diaphragmatic hernia with ectopia cordis as Cantrell’s does.