What is the most likely cardiovascular abnormality in a 1-day-old boy with congenital anomalies, including a small face and jaw, overlapping fingers, and a murmur at the left lower sternal border, born at 36 weeks gestation to a 25-year-old woman, gravida (number of times pregnant) 2, para (number of viable births) 2?

Differential Diagnosis for the 1-day-old Boy

The clinical presentation of this infant suggests a complex congenital anomaly with multiple system involvement. The key findings include a small face and jaw, prominence on the back of the head, overlapping fingers, convex soles, limited hip abduction, and a heart murmur. These features are suggestive of a specific set of diagnoses.

• Single Most Likely Diagnosis

  • Trisomy 18 (Edwards Syndrome): The combination of small face and jaw (micrognathia), overlapping fingers (clenched fists with overlapping index fingers), and rocker-bottom feet (convex soles) are highly suggestive of Trisomy 18. The presence of a heart murmur, which could be due to a ventricular septal defect (VSD), is also common in Trisomy 18.

• Other Likely Diagnoses

  • Trisomy 13 (Patau Syndrome): Although less likely than Trisomy 18 given the specific constellation of findings, Trisomy 13 can also present with congenital heart defects, micrognathia, and limb abnormalities.
  • Ventricular Septal Defect (VSD): A common congenital heart defect that could explain the murmur, though the other systemic findings would need alternative explanations.

• Do Not Miss Diagnoses

  • Hypoplastic Left Heart Syndrome (HLHS): Although the specific findings do not directly point to HLHS, any congenital heart defect diagnosed in the neonatal period warrants consideration of this potentially life-threatening condition.
  • Total Anomalous Pulmonary Venous Connection (TAPVC): This condition can present with cyanosis and heart failure symptoms early in life and is critical to diagnose promptly.
  • Congenital Diaphragmatic Hernia: The decreased fetal movement and the presence of a murmur could potentially be related to a diaphragmatic hernia, especially if there are respiratory symptoms.

• Rare Diagnoses

  • Jarcho-Levin Syndrome: A rare condition characterized by short stature, abnormal vertebrae, and limb abnormalities, which could potentially explain some of the findings.
  • Other Chromosomal Abnormalities: While less common, other chromosomal abnormalities could present with similar congenital anomalies and should be considered in the differential diagnosis, especially if the clinical picture does not perfectly align with the more common trisomies.