Iranian Journal of Pediatrics

Published by: Kowsar

Amelia: A Case Report and Literature Review

Fatemeh Eghbalian 1 , * , Amine Sharif 1 and Amir Reza Monsef 1
Authors Information
1 Hamadan University of Medical Sciences, Hamadan, IR Iran
Article information
  • Iranian Journal of Pediatrics: December 28, 2015, 25 (6); e4114
  • Published Online: December 23, 2015
  • Article Type: Letter
  • Received: September 26, 2015
  • Accepted: October 6, 2015
  • DOI: 10.5812/ijp.4114

To Cite: Eghbalian F, Sharif A, Monsef A R. Amelia: A Case Report and Literature Review, Iran J Pediatr. 2015 ; 25(6):e4114. doi: 10.5812/ijp.4114.

Copyright © 2015, Growth & Development Research Center.This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
  • 1. Gupta P, Kumar A. Amelia-meromelia sequence with atrial septal defect-a rare occurrence. Fetal Pediatr Pathol. 2014; 33(2): 92-7[DOI][PubMed]
  • 2. Klaassen Z, Choi M, Musselman R, Eapen D, Tubbs RS, Loukas M. A review of supernumerary and absent limbs and digits of the upper limb. Surg Radiol Anat. 2012; 34(2): 101-6[DOI][PubMed]
  • 3. Bianca S, Bartoloni G, Libertini C, Boemi G, Barrano B, Cataliotti A, et al. Fetal upper limb amelia with increased nuchal translucency. Congenit Anom (Kyoto). 2009; 49(3): 121-2[DOI][PubMed]
  • 4. Lenz W. Genetics and limb deficiencies. Clin Orthop Relat Res. 1980; (148): 9-17[PubMed]
  • 5. Froster-Iskenius UG, Baird PA. Amelia: incidence and associated defects in a large population. Teratology. 1990; 41(1): 23-31[DOI][PubMed]
  • 6. Evans JA, Vitez M, Czeizel A. Patterns of acrorenal malformation associations. Am J Med Genet. 1992; 44(4): 413-9[DOI][PubMed]
  • 7. Mastroiacovo P, Kallen B, Knudsen LB, Lancaster PA, Castilla EE, Mutchinick O, et al. Absence of limbs and gross body wall defects: an epidemiological study of related rare malformation conditions. Teratology. 1992; 46(5): 455-64[DOI][PubMed]
  • 8. Smithells RW, Newman CG. Recognition of thalidomide defects. J Med Genet. 1992; 29(10): 716-23[PubMed]
  • 9. Bermejo-Sanchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, et al. Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. Am J Med Genet C Semin Med Genet. 2011; 157C(4): 288-304[DOI][PubMed]
  • 10. Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, et al. Tetra-amelia and lung hypo/aplasia syndrome: new case report and review. Am J Med Genet A. 2008; 146A(21): 2799-803[DOI][PubMed]
  • 11. Krahn M, Julia S, Sigaudy S, Liprandi A, Bernard R, Gonnet K, et al. Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes. Clin Genet. 2005; 68(6): 558-60[DOI][PubMed]
  • 12. Kallen B, Rahmani TM, Winberg J. Infants with congenital limb reduction registered in the Swedish Register of Congenital Malformations. Teratology. 1984; 29(1): 73-85[DOI][PubMed]
  • 13. Song SY, Chi JG. Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome? Clin Genet. 1996; 50(6): 502-4[PubMed]
  • 14. Eghbalian F, Monsef A, Mousavi-Bahar SH. Urinary tract and other associated anomalies in newborns with esophageal atresia. Urol J. 2009; 6(2): 123-6[PubMed]
  • 15. Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A. 2010; 152A(2): 472-8[DOI][PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:



Create Citiation Alert
via Google Reader

Readers' Comments