title: Choanal atresia associated with tracheoesophageal fistula: the spectrum of carbimazole embryopathy.
abstract: This article focuses on the case of a newborn infant boy with bilateral choanal atresia, tracheoesophageal fistula, and bilateral fifth-finger clinodactyly. This infant had been exposed to carbimazole in utero during the treatment of maternal Graves disease. Teratogenic defects caused by carbimazole were recently recognized, and their phenotypes have been defined. Choanal atresia, esophageal atresia, athelia or hypothelia, developmental delay, hearing loss, and dysmorphic facial features have all been reported. To our knowledge, this is the first documented case of tracheoesophageal fistula without esophageal atresia (H type). Knowledge of the teratogenic potential of carbimazole is important when managing Graves disease in women of childbearing age.
authors.affiliation: Department of Pediatric Otolaryngology-Head Neck Surgery, Jeanne de Flandre Children's Hospital-University Hospital of Lille, Lille, France.
authors.forename: Dorothée
authors.initials: D
authors.lastname: Douchement
authors.forename: Thameur
authors.initials: T
authors.lastname: Rakza
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder
authors.forename: Nicolas-Xavier
authors.initials: NX
authors.lastname: Bonne
authors.forename: Pierre
authors.initials: P
authors.lastname: Fayoux
mesh_terms: D013956:Antithyroid Agents / Q000009:adverse effects* / Q000627:therapeutic use; D002231:Carbimazole / Q000009:adverse effects* / Q000627:therapeutic use; D002754:Choanal Atresia / Q000139:chemically induced* / Q000150:complications / Q000175:diagnosis; D004724:Endoscopy; D005260:Female; D006111:Graves Disease / Q000188:drug therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects / Q000139:chemically induced*; D014138:Tracheoesophageal Fistula / Q000139:chemically induced* / Q000150:complications
chemical_list: D013956:Antithyroid Agents; D002231:Carbimazole