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Carbimazole embryopathy: An emerging phenotype
Author(s) -
Foulds Nicola,
Walpole Ian,
Elmslie Frances,
Mansour Sahar
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30418
Subject(s) - carbimazole , medicine , choanal atresia , atresia , dermatology , pediatrics , pathology , anatomy , disease , graves' disease
Concerns about the safety of carbimazole in pregnancy were raised in 1985 [Milham (1985): Teratology 32:321]. Since this time many reports of children believed to have been affected by carbimazole in utero have appeared in the medical literature. Initial reports were of an increased incidence of scalp defects in the infants of treated mothers, but many other anomalies have now been described. Choanal atresia, gastrointestinal anomalies‐particularly esophageal atresia, athelia/hypothelia, developmental delay, hearing loss, and dysmorphic facial features have all been reported. The phenotype associated with exposure to carbimazole appears to be rare but specific with distinctive facial features. We report on two new cases of carbimazole embryopathy with strikingly similar facial features. © 2004 Wiley‐Liss, Inc.