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Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype
Elena Lopez-Rangel1, Margot Isham Van Allen
1Department of Medical Genetics, British Columbia's Children and Women's Center, University of British Columbia, Vancouver, Canada. elopez@cw.bc.ca
Birth Defects Research. Part A, Clinical and Molecular Teratology
|November 3, 2005
Summary
Prenatal exposure to fluconazole can cause a recognizable pattern of birth defects, known as fluconazole embryopathy. This case highlights key features like craniosynostosis and digital abnormalities, reinforcing its teratogenic potential.
Area of Science:
- Teratology
- Developmental Biology
- Clinical Genetics
Background:
- Fluconazole, a common antifungal, is a potential teratogen at high doses (400-800 mg/day).
- Previous reports describe fluconazole embryopathy with distinct features.
- This study investigates a case with suspected fluconazole-induced congenital anomalies.
Observation:
- A 9-month-old male infant exposed to maternal fluconazole (400 mg/day) throughout pregnancy.
- The infant presented with seizures, neonatal abstinence syndrome, and multiple congenital anomalies.
- Key findings include craniosynostosis, radioulnar synostosis, and symphalangism (D2-D5).
Findings:
- The observed cranial synostosis, symphalangism, and long-bone abnormalities align with known fluconazole embryopathy.
- The patient's phenotype is distinct from other known genetic syndromes and efavirenz embryopathy.
- This case provides further evidence for a specific teratogenic phenotype associated with prenatal fluconazole exposure.
Implications:
- Reinforces the teratogenic risk of prenatal fluconazole exposure, particularly at higher doses.
- Aids in the diagnosis and recognition of fluconazole embryopathy.
- Highlights the importance of careful medication management during pregnancy, especially in HIV-infected mothers.