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Two siblings with fetal hydantoin syndrome
F Ozkinay1, A Yenigün, M Kantar
1Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
The Turkish Journal of Pediatrics
|July 25, 1998
Summary
Fetal hydantoin syndrome (FHS) can cause congenital abnormalities, including rare cases of ambiguous genitalia. This case study highlights two siblings with FHS, both exhibiting ambiguous genitalia despite having female karyotypes and internal organs.
Area of Science:
- Teratology
- Clinical Genetics
- Pharmacology
Background:
- Congenital abnormalities linked to anticonvulsant drugs during pregnancy were noted in 1968.
- Hydantoin's teratogenic effects, including various malformations, were clarified in 1973.
- Fetal hydantoin syndrome (FHS) encompasses digit/nail hypoplasia, growth retardation, facial anomalies, and more.
Observation:
- Two siblings presented with characteristics of FHS.
- Both siblings exhibited ambiguous genitalia.
- The mother received diphenylhydantoin (DPH) and phenobarbital during pregnancy.
Findings:
- The patients displayed numerous features consistent with FHS.
- Ambiguous genitalia were a notable feature in both siblings.
- Clinical and laboratory evaluations confirmed normal female internal genitalia and female karyotypes.
Implications:
- This case expands the known spectrum of FHS, particularly regarding genital ambiguity.
- Highlights the importance of considering maternal medication history in diagnosing congenital anomalies.
- Reinforces the need for comprehensive genetic and clinical evaluation in suspected FHS cases.