title: Methimazole embryopathy: a contribution to defining the phenotype.
abstract: It has been suggested that children prenatally exposed to methimazole may present some features in common but the phenotype remains to be defined. The reported facial features include upward slanted palpebral fissures, arched flared eyebrows and small nose with a broad bridge. Choanal atresia and other anomalies like esophageal atresia and aplasia cutis were also described with this embryopathy. Additionally, developmental delay was reported in some patients along with one of these major malformation. We present a patient with the mentioned facial features, developmental delay and radio-ulnar synostosis whose mother has been exposed to methimazole during pregnancy and any other ethiological cause could be recognize.
authors.affiliation: Servicio de Informacion de Agentes Teratogenicos, Centro Nacional de Genetica Medica, Buenos Aires, Argentina. sfetal@genes.gov.ar
authors.forename: Rita M
authors.initials: RM
authors.lastname: Valdez
authors.forename: Pablo M
authors.initials: PM
authors.lastname: Barbero
authors.forename: Rosa C
authors.initials: RC
authors.lastname: Liascovich
authors.forename: Laura F
authors.initials: LF
authors.lastname: De Rosa
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Aguirre
authors.forename: Liliana G
authors.initials: LG
authors.lastname: Alba
mesh_terms: D000014:Abnormalities, Drug-Induced; D000015:Abnormalities, Multiple; D013956:Antithyroid Agents / Q000009:adverse effects*; D019066:Facies; D006801:Humans; D007223:Infant; D008297:Male; D008713:Methimazole / Q000009:adverse effects*; D010641:Phenotype; D011859:Radiography; D011884:Radius / Q000002:abnormalities; D013580:Synostosis / Q000139:chemically induced / Q000000981:diagnostic imaging; D014457:Ulna / Q000002:abnormalities
chemical_list: D013956:Antithyroid Agents; D008713:Methimazole