What is the likely diagnosis for a newborn male infant with intrauterine growth restriction (IUGR), microcephaly, wide anterior fontanelle, cleft palate, and hypoplastic distal phalanges, born at 38 weeks gestation to a mother with no prenatal care?

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Differential Diagnosis for Newborn Male Infant with Growth Restriction

  • Single Most Likely Diagnosis
    • Fetal Alcohol Syndrome (FAS): The presence of growth restriction, microcephaly, wide anterior fontanelle, cleft palate, and hypoplasia of the distal phalanges in the absence of prenatal care suggests possible maternal alcohol use during pregnancy, which is a key factor in FAS.
  • Other Likely Diagnoses
    • Congenital Infections (e.g., TORCH infections): The lack of prenatal care increases the risk of undiagnosed infections during pregnancy, which can cause growth restriction and congenital anomalies.
    • Maternal Substance Abuse (other than alcohol): Use of illicit substances during pregnancy can lead to similar findings, including growth restriction and congenital anomalies.
    • Genetic Syndromes (e.g., trisomy 18): Although less likely, genetic syndromes can present with growth restriction, microcephaly, and congenital anomalies.
  • Do Not Miss Diagnoses
    • Congenital Hypothyroidism: This condition can cause growth restriction and developmental delays, and if left untreated, can have severe consequences.
    • Congenital Syphilis: A potentially life-threatening condition if not treated promptly, which can cause growth restriction, congenital anomalies, and other systemic problems.
    • Maternal Diabetes: Uncontrolled diabetes during pregnancy can lead to growth restriction and congenital anomalies, and it is crucial to identify and manage this condition.
  • Rare Diagnoses
    • Chromosomal Deletion Syndromes (e.g., 4p16.3 deletion syndrome): These rare genetic conditions can present with growth restriction, microcephaly, and congenital anomalies.
    • Teratogenic Exposure (e.g., to certain medications or environmental toxins): Although rare, exposure to certain substances during pregnancy can cause congenital anomalies and growth restriction.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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