Differential Diagnosis for the Newborn
The clinical presentation of this newborn includes several key findings that guide the differential diagnosis. These findings include overlapping coronal sutures, a systolic murmur, an underdeveloped penis with the urethral meatus at the base, a sacral dimple, and cyanosis in the digits.
Single Most Likely Diagnosis
- Hypospadias with associated congenital heart disease: The presence of a systolic murmur radiating to the axilla suggests congenital heart disease, and the underdeveloped penis with the urethral meatus located at the ventral surface of the base is indicative of hypospadias. These conditions can occur together, especially in the context of genetic syndromes or as part of a spectrum of developmental anomalies.
Other Likely Diagnoses
- Genitourinary anomalies (e.g., epispadias): Although less likely given the specific location of the urethral meatus, other genitourinary anomalies could be considered, especially if there are associated findings suggestive of bladder exstrophy or other complex genitourinary malformations.
- Ventricular septal defect (VSD): The systolic murmur radiating to the axilla is highly suggestive of a VSD, a common congenital heart defect that can occur in isolation or as part of a more complex cardiac anomaly.
Do Not Miss Diagnoses
- Tetralogy of Fallot: Although the murmur's description does not classically suggest Tetralogy of Fallot (which typically presents with a harsh systolic ejection murmur due to pulmonary stenosis and cyanosis), any congenital heart defect with cyanosis warrants consideration of this diagnosis due to its significant implications for management and prognosis.
- Spinal dysraphism: The presence of a sacral dimple, even with intact skin, necessitates consideration of spinal dysraphism, as this condition can be associated with underlying spinal cord anomalies that may require surgical intervention to prevent future neurological complications.
Rare Diagnoses
- Bladder exstrophy-epispadias complex: This is a rare congenital anomaly involving the genitourinary system, characterized by the exstrophy of the bladder and epispadias. It could be considered if the clinical findings suggested a more complex genitourinary malformation.
- VACTERL association: This is a rare congenital disorder characterized by vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. While the newborn does not exhibit all these features, the combination of cardiac and genitourinary anomalies, along with the sacral dimple, might suggest this diagnosis in a broader differential.