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Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings

Vianna, Fernanda S.L.a,b,c,d; Schüler-Faccini, Lavíniaa,b,c,d; Leite, Julio César L.c; de Sousa, Silvia H.C.e; da Costa, Lea Márcia M.f; Dias, Murilo F.g; Morelo, Elaine F.h; Doriqui, Maria Juliana R.i; Maximino, Claudia M.j; Sanseverino, Maria Teresa V.a,b,c

doi: 10.1097/MCD.0b013e32835ffc58
Original Articles

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.

aINAGEMP – National Institute of Population Medical Genetics

bSIAT – Teratogen Information Service

cMedical Genetics Service, Hospital de Clinicas2de Porto Alegre

dGenetics Department, Universidade Federal do Rio Grande do Sul, Porto Alegre

eMaternal and Child Hospital Complex of Maranhão, Maternity Dr Benedito Leite and Hospital Juvencio Mattos

fDepartment of Health, State of Maranhão

gMaternal and Child Health Post Graduation Program, Federal University of Maranhao, Sao Luis

hNational Leprosy Program – PNH, Health Vigilance Secretariat – SVS, Ministry of Health

iDepartment of Pharmacovigilance/National Sanitary Vigilance Agency – ANVISA, Brasilia DF

jBrazilian Association of People with Thalidomide Syndrome – ABPST, Sao Paulo, Brazil

Correspondence to Lavínia Schüler-Faccini, Genetics Department – IB, Federal University of Rio Grande do Sul, Agronomy Campus, CP 15053, Postal Code 91501-970 Porto Alegre, RS, BrazilFax: + 55 51 33598008/+55 519975-6770; e-mail: lavinia.faccini@ufrgs.br

Received October 17, 2012

Accepted February 8, 2013

© 2013 Lippincott Williams & Wilkins, Inc.