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Differential Diagnosis

The patient's presentation suggests a complex condition with multiple symptoms. Here's a breakdown of the differential diagnosis:

  • Single most likely diagnosis

    • Congenital Syphilis: The combination of a saddle nose, big eyes, loud cry, and developmental delays (e.g., not able to sit without support, no teeth eruption, inability to speak words) points towards congenital syphilis. The stranger anxiety and unidextrous reach could be within normal limits for the child's age or slightly delayed, which also aligns with the potential effects of congenital syphilis on development.

  • Other Likely diagnoses

    • Congenital Infections (Toxoplasmosis, Rubella, CMV): These infections can cause a range of symptoms including developmental delays, vision and hearing problems, and physical abnormalities. However, the specific constellation of symptoms, especially the saddle nose, is more suggestive of syphilis.
    • Fetal Alcohol Syndrome: This condition can result in developmental delays, facial abnormalities, and growth issues. However, the specific features mentioned, like the saddle nose, are not as commonly associated with FAS as they are with congenital syphilis.

  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)

    • HIV Infection: Although less likely given the specific symptoms, HIV can cause a range of systemic and developmental issues. It's crucial to rule out HIV due to its significant implications for treatment and prognosis.
    • Meningitis or Other CNS Infections: The history of acute gastroenteritis and current presentation could potentially mask or be complicated by a CNS infection, which would require immediate attention.

  • Rare diagnoses

    • storage diseases (e.g., Hurler syndrome): These conditions can cause developmental delays and some physical abnormalities but are less likely given the specific combination of symptoms presented.
    • Other congenital infections or syndromes: There are numerous rare conditions that could potentially explain some of the symptoms, but they are less likely and would require specific diagnostic testing to confirm.

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