Amelia: A Case Report and Literature Review

authors:

avatar Fatemeh Eghbalian ORCID 1 , * , avatar Amine Sharif 1 , avatar Amir Reza Monsef 1

Hamadan University of Medical Sciences, Hamadan, IR Iran
Iranian Journal of Pediatrics: Vol.25, issue 6; e4114
published online: December 23, 2015
article type: Letter
received: September 26, 2015
accepted: October 6, 2015
DOI: https://doi.org/10.5812/ijp.4114

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

References

  • 1.

    Gupta P, Kumar A. Amelia-meromelia sequence with atrial septal defect-a rare occurrence. Fetal Pediatr Pathol. 2014;33(2):92-7. [PubMed ID: 24328941]. https://doi.org/10.3109/15513815.2013.864348.

  • 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. [PubMed ID: 22068244]. https://doi.org/10.1007/s00276-011-0871-1.

  • 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. [PubMed ID: 20002906]. https://doi.org/10.1111/j.1741-4520.2009.00238.x.

  • 4.

    Lenz W. Genetics and limb deficiencies. Clin Orthop Relat Res. 1980;(148):9-17. [PubMed ID: 7379414].

  • 5.

    Froster-Iskenius UG, Baird PA. Amelia: incidence and associated defects in a large population. Teratology. 1990;41(1):23-31. [PubMed ID: 2305372]. https://doi.org/10.1002/tera.1420410104.

  • 6.

    Evans JA, Vitez M, Czeizel A. Patterns of acrorenal malformation associations. Am J Med Genet. 1992;44(4):413-9. [PubMed ID: 1442878]. https://doi.org/10.1002/ajmg.1320440405.

  • 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. [PubMed ID: 1462250]. https://doi.org/10.1002/tera.1420460510.

  • 8.

    Smithells RW, Newman CG. Recognition of thalidomide defects. J Med Genet. 1992;29(10):716-23. [PubMed ID: 1433232].

  • 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. [PubMed ID: 22002956]. https://doi.org/10.1002/ajmg.c.30319.

  • 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. [PubMed ID: 18837045]. https://doi.org/10.1002/ajmg.a.32489.

  • 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. [PubMed ID: 16283889]. https://doi.org/10.1111/j.1399-0004.2005.00531.x.

  • 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. [PubMed ID: 6701808]. https://doi.org/10.1002/tera.1420290109.

  • 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 ID: 9147883].

  • 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 ID: 19472132].

  • 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. [PubMed ID: 20101700]. https://doi.org/10.1002/ajmg.a.33261.