title: Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings.
abstract: Thalidomide is the best-known teratogen worldwide. It was first marketed as a sedative in the late 1950s, but the birth of ~10 000 children with birth defects resulted in the withdrawal of thalidomide from the market in 1962. Thalidomide embryopathy affects almost all organs but the main defects are concentrated in the limbs, eyes, ears, and heart. Shortly after the withdrawal of thalidomide from the market, its effectiveness in the treatment of erythema nodosum leprosum, an inflammatory condition resulting from leprosy, was reported and since the mid-1990s, the drug has been used widely in the treatment of cancers and autoimmune diseases, among other conditions. 40 000 new cases of leprosy are diagnosed every year in Brazil. Although there is a strict legislation for the prescription and use of thalidomide in Brazil, cases of thalidomide embryopathy have continued to be reported. Here, we present two new cases of thalidomide embryopathy identified in 2011 and review the major clinical findings in the literature that can aid the identification of the embryopathy.
authors: INAGEMP - National Institute of Population Medical Genetics SIAT - Teratogen Information Service Medical Genetics Service, Hospital de Clinicas2de Porto Alegre Genetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre Maternal and Child Hospital Complex of Maranhão, Maternity Dr Benedito Leite and Hospital Juvencio Mattos Department of Health, State of Maranhão Maternal and Child Health Post Graduation Program, Federal University of Maranhao, Sao Luis National Leprosy Program - PNH, Health Vigilance Secretariat - SVS, Ministry of Health Department of Pharmacovigilance/National Sanitary Vigilance Agency - ANVISA, Brasilia DF Brazilian Association of People with Thalidomide Syndrome - ABPST, Sao Paulo, Brazil.
authors: Fernanda S L
authors: FSL
authors: Vianna
authors: Lavínia
authors: L
authors: Schüler-Faccini
authors: Julio César L
authors: JCL
authors: Leite
authors: Silvia H C
authors: SHC
authors: de Sousa
authors: Lea Márcia M
authors: LMM
authors: da Costa
authors: Murilo F
authors: MF
authors: Dias
authors: Elaine F
authors: EF
authors: Morelo
authors: Maria Juliana R
authors: MJR
authors: Doriqui
authors: Claudia M
authors: CM
authors: Maximino
authors: Maria Teresa V
authors: MTV
authors: Sanseverino
mesh_terms: D001938:Brazil / Q000453:epidemiology; D019353:Endemic Diseases; D004893:Erythema Nodosum / Q000188:drug therapy; D005260:Female; D005315:Fetal Diseases / Q000139:chemically induced*; D006801:Humans; D006993:Hypnotics and Sedatives / Q000009:adverse effects; D007880:Legislation, Drug; D007918:Leprosy / Q000188:drug therapy / Q000453:epidemiology* / Q000473:pathology; D008297:Male; D017689:Polydactyly / Q000139:chemically induced; D013792:Thalidomide / Q000009:adverse effects*
chemical_list: D006993:Hypnotics and Sedatives; D013792:Thalidomide