title: [A new possible phenotype of carbimazole embryopathy: A case report].
abstract: Many disorders have been described in infants exposed to carbimazole during the first weeks of pregnancy. The most common of them are congenital aplasia cutis, choanal atresia and esophageal atresia. Rather unspecific dysmorphic features and developmental delay have also been reported. This set of congenital malformations suggests the existence of a phenotype of carbimazole embryopathy. To date, about 30 cases have been reported. We report on a new case of pregnancy accidentally conducted under carbimazole which gave birth to a newborn presenting with a hypertrophic pyloric stenosis associated with hiatus hernia and tracheomalacia. These anomalies have been associated with other malformations already identified in children exposed in utero to carbimazole such as scalp defects, retrognathia and gothic palate. As no relation between propylthiouracil and congenital malformations has yet been described, this drug seems highly preferable for pregnant women presenting with hyperthyroidism during the 1st trimester of their pregnancy.
authors.affiliation: Service d'endocrinologie et de diabétologie pédiatriques, hôpital Femme-Mère-Enfant, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron/Lyon cedex, France. hmellerio@yahoo.fr
authors.forename: H
authors.initials: H
authors.lastname: Mellerio
authors.forename: C-L
authors.initials: CL
authors.lastname: Gay
authors.forename: M G
authors.initials: MG
authors.lastname: Forest
authors.forename: J
authors.initials: J
authors.lastname: Orgiazzi
authors.forename: M
authors.initials: M
authors.lastname: Nicolino
mesh_terms: D000014:Abnormalities, Drug-Induced / Q000175:diagnosis / Q000209:etiology*; D013956:Antithyroid Agents / Q000627:therapeutic use / Q000633:toxicity*; D002231:Carbimazole / Q000627:therapeutic use / Q000633:toxicity*; D004476:Ectodermal Dysplasia / Q000139:chemically induced / Q000175:diagnosis; D005260:Female; D006111:Graves Disease / Q000188:drug therapy*; D006551:Hernia, Hiatal / Q000139:chemically induced* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy*; D011261:Pregnancy Trimester, First; D046248:Pyloric Stenosis, Hypertrophic / Q000139:chemically induced* / Q000175:diagnosis; D055090:Tracheomalacia / Q000139:chemically induced* / Q000175:diagnosis
chemical_list: D013956:Antithyroid Agents; D002231:Carbimazole