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Carbimazole embryopathy: an emerging phenotype.
Nicola Foulds1, Ian Walpole, Frances Elmslie
1SW Thames Regional Genetics Services, St. George's Hospital, London, UK. nfoulds@sghms.ac.uk
American Journal of Medical Genetics. Part A
|December 4, 2004
Summary
Carbimazole use during pregnancy may cause birth defects, including scalp defects and developmental issues. This study reports two new cases of carbimazole embryopathy with similar distinctive facial features.
Area of Science:
- Obstetrics and Gynecology
- Teratology
- Pediatric Medicine
Background:
- Carbimazole is an antithyroid medication used to treat hyperthyroidism.
- Concerns regarding carbimazole's safety during pregnancy emerged in 1985.
- Numerous reports link in utero carbimazole exposure to congenital anomalies.
Observation:
- Initial reports focused on scalp defects in infants exposed to carbimazole.
- Subsequent literature describes a broader spectrum of anomalies.
- Observed anomalies include choanal atresia, gastrointestinal issues, athelia/hypothelia, developmental delay, hearing loss, and dysmorphic facial features.
Findings:
- The phenotype associated with carbimazole exposure is rare but exhibits specific, distinctive facial features.
- Two new cases of carbimazole embryopathy are presented.
- Both reported cases display strikingly similar facial characteristics.
Implications:
- Highlights the potential teratogenic effects of carbimazole.
- Emphasizes the need for careful risk-benefit assessment when prescribing carbimazole to pregnant individuals.
- Contributes to a better understanding of carbimazole embryopathy for improved diagnosis and management.