ipgocr

Gynecology & Obstetrics Case report

ISSN - 2471-8165

Case Report - (2020) Volume 6, Issue 1

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A Report of 2 Cases of Tetra-Amelia Syndrome

 

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Abstract

The objective of this study was to report 2 cases of tetra-amelia syndrome. The first case corresponded to a tetra-amelia-1 syndrome with, in addition, facial and probably pulmonary anomalies. He was born 36 weeks of gestation and died within the first 10 minutes of life. The second case had a tetra-amelia-2 phenotype with a symmetrical amelia. No other abnormalities were detected on ultrasound. Tetra-amelia syndrome is extremely rare; it is linked to genetic mutations that cause great phenotypic heterogeneity

References

  1. Wilcox WR, Coulter CP, Schmitz ML (2015) Congenital limb deficiency disorders. Clin Perinatol 42: 281-300.
  2. Bermejo SE,  Cuevas L, Amar E  (2011) 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  157: 288-304.
  3. Zlotogora JSM, Shabany YO, Jarallah RY (1993) Syndrome of tetraamelia with pulmonary hypoplasia. Am J Med Genet 47: 570-571.
  4. Zimmer EZ (1985) Tetra-amelia with multiple malformations in six male fetuses in one kindred. Europ. J Pediat 144: 412-414.
  5. Rosenak D (1991) Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. Am J Med Genet 38: 25-28.
  6. Gershoni BR (1990) Roberts syndrome or “X-linked amelia” ? . Am J Med Genet 37: 569-572.
  7. Kosaki K, Jones MC, Stayboldt C (1996) Zimmer phocomelia: delineation by principal coordinate analysis. Am J Med Genet 66: 55-59.
  8. Niemann S(2004) Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet 74: 558-563.
  9. Krahn M (2005)Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes. Clin Genet 68: 558-560.
  10. Szenker-RE, Altunoglu U (2018) RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. Nature 557: 564-569.

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, DOI: 10.36648/2471-8165.6.1.85

Copyright:This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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