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A New Embryopathy

Dennis Wolf, MRCS; Nicola Foulds, FRCP; Hamid Daya, FRCS(ORL)

Arch Otolaryngol Head Neck Surg. 2006;132:1009-1011.

Carbimazole embryopathy is a recently recognized and defined phenotype. Choanal atresia; gastrointestinal anomalies, particularly esophageal atresia; athelia or hypothelia; developmental delay; hearing loss; aplasia cutis; and dysmorphic facial features all can occur after exposure to the antithyroid drugs carbimazole or methimazole during gestation. Although full expression of this phenotype appears to be an uncommon sequelae of antenatal carbimazole exposure, infants with less overt manifestations may remain with the condition undiagnosed. It is clearly important when an infant with choanal atresia is assessed to take an adequate drug history and consider this embryopathy as a potential causative factor.

Author Affiliations: Department of Otolaryngology, St George's Hospital, Tooting, London (Messrs Wolf and Daya), and Department of Genetics, Southampton University Hospital, Southampton (Dr Foulds), England.