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

被引：27

作者：

Vianna, Fernanda S. L. ^{[1
,2
,3
,4
]}

Schueler-Faccini, Lavinia ^{[1
,2
,3
,4
]}

Leite, Julio Cesar L. ^{[3
]}

de Sousa, Silvia H. C. ^{[5
]}

da Costa, Lea Marcia M. ^{[6
]}

Dias, Murilo F. ^{[7
]}

Morelo, Elaine F. ^{[8
]}

Doriqui, Maria Juliana R. ^{[9
]}

Maximino, Claudia M. ^{[10
]}

Sanseverino, Maria Teresa V. ^{[1
,2
,3
]}

机构：

[1] Univ Fed Rio Grande do Sul, INAGEMP Natl Inst Populat Med Genet, BR-91501970 Porto Alegre, RS, Brazil

[2] Univ Fed Rio Grande do Sul, SIAT Teratogen Informat Serv, BR-91501970 Porto Alegre, RS, Brazil

[3] Univ Fed Rio Grande do Sul, Med Genet Serv, Hosp Clin Porto Alegre 2De, BR-91501970 Porto Alegre, RS, Brazil

[4] Univ Fed Rio Grande do Sul, Dept Genet, BR-91501970 Porto Alegre, RS, Brazil

[5] Univ Fed Maranhao, Matern Dr Benedito Leite & Hosp Juvencio Mattos, Sao Luis, Brazil

[6] Univ Fed Maranhao, Dept Hlth, Sao Luis, Brazil

[7] Univ Fed Maranhao, Maternal & Child Hlth Post Graduat Program, Sao Luis, Brazil

[8] Natl Sanit Vigilance Agcy ANVISA, Hlth Vigilance Secretariat SVS, Natl Leprosy Program, Minist Hlth, Brasilia, DF, Brazil

[9] Natl Sanit Vigilance Agcy ANVISA, Dept Pharmacovigilance, Brasilia, DF, Brazil

[10] Brazilian Assoc People Thalidomide Syndrome ABPST, Sao Paulo, Brazil

来源：

CLINICAL DYSMORPHOLOGY | 2013年 / 22卷 / 02期

关键词：

aberrant tears; embryopathy; heart disease; limb reduction defects; microphthalmia; thalidomide;

D O I：

10.1097/MCD.0b013e32835ffc58

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Thalidomide is the best-known teratogen worldwide. It was first marketed as a sedative in the late 1950s, but the birth of similar to 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. Clin Dysmorphol 22:59-63 (C) 2013 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

引用

页码：59 / 63

页数：5