Differential Diagnosis for Newborn with Abnormal Facies and Hypocalcemia
- Single most likely diagnosis
- c) DiGeorge syndrome: This condition is characterized by abnormal facies, including low-set ears, small receding jaw, and widely separated eyes, which matches the description provided. Additionally, DiGeorge syndrome is associated with hypocalcemia due to parathyroid gland dysfunction, which is consistent with the low Ca++ levels in the serum studies. The development of multiple muscle spasms at 30 hours of age further supports this diagnosis, as hypocalcemia can cause neuromuscular irritability.
- Other Likely diagnoses
- None: Based on the information provided, DiGeorge syndrome is the most fitting diagnosis. However, other conditions that involve congenital abnormalities and hypocalcemia could be considered, but they are less likely given the specific combination of features described.
- Do Not Miss diagnoses
- None: While other immunodeficiency disorders like a) Bruton's agammaglobulinemia, b) Common variable immunodeficiency, d) Selective IgA deficiency, and e) Transient hypogammaglobulinemia of infancy are important to consider in the context of immune system dysfunction, they do not directly explain the hypocalcemia and specific congenital anomalies described in this scenario. DiGeorge syndrome itself involves immunodeficiency due to thymic hypoplasia, making it a condition that encompasses both the immune and calcium metabolism abnormalities.
- Rare diagnoses
- Other rare genetic syndromes that involve congenital anomalies and hypocalcemia, such as HDR syndrome (hypoparathyroidism, deafness, and renal dysplasia), could be considered. However, these would be less likely given the specific features described, which more closely align with DiGeorge syndrome.