Methimazole embryopathy: a contribution to defining the phenotype.
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.
Valdez
Rita M
RM
Servicio de Informacion de Agentes Teratogenicos, Centro Nacional de Genetica Medica, Buenos Aires, Argentina. sfetal@genes.gov.ar
Barbero
Pablo M
PM
Liascovich
Rosa C
RC
De Rosa
Laura F
LF
Aguirre
Miguel A
MA
Alba
Liliana G
LG
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
D013956:Antithyroid Agents; D008713:Methimazole