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Journal of Obstetrics and Gynaecology Volume 36, 2016 - Issue 3
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CASE REPORT

Prenatally identified Pallister–Killian syndrome: Ultrasound pattern and diagnostic considerations

A. SantamariaDepartment of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Messina, Italy
,
A. S. LaganàDepartment of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Messina, ItalyCorrespondence[email protected]
,
V. BarresiDepartment of Human Pathology, University of Messina, Messina, Italy
,
O. TrioloDepartment of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Messina, Italy
,
N. S. FondacaroDepartment of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Messina, Italy
&
F. CorradoDepartment of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Messina, Italy
Pages 406-407 | Published online: 15 Oct 2015

References

  • Johnstone ED, Jones EA. 2012. Ultrasound presentation of Pallister-Killian syndrome with a prominent sacral appendage. Ultrasound in Obstetrics & Gynecology 40:239–241.
  • Langford K, Hodgson S, Seller M et al. 2000. Pallister-Killian syndrome presenting through nuchal translucency screening for trisomy 21. Prenatal Diagnosis 20:670–672.
  • Mourali M, El Fekih C, Dimassi K et al. 2010. First trimester diagnosis of Pallister-Killian syndrome in a fetus with suggestive abnormalities. La Tunisie Medicale 88:666–669.
  • Ozlü T, Ocak Z, Ozyurt O. 2014. Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency. Taiwan Journal of Obstetrics & Gynecology 53:404–405.
  • Pallister PD, Meisner LF, Elejalde BR et al. 1977. The pallister mosaic syndrome. Birth Defects Original Article Series 13:103–110.
  • Rivera H, Garcıa-Esquivel L, Jimenez-Sainz M et al. 1987. Centric fission, centromere-telomere fusion and isochromosome formation: A possible origin of a de novo 12p trisomy. Clinical Genetics 31:393–398.
  • Rodríguez JI, Garcia I, Alvarez J et al. 1994. Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. American Journal of Medical Genetics 53:176–181.
  • Srinivasan A, Wright D. 2014. Pallister-Killian syndrome. American Journal of Case Reports 15:194–198.
  • Wilson RD, Harrison K, Clarke LA et al. 1994. Tetrasomy 12p (Pallister-Killian syndrome): Ultrasound indicators and confirmation by interphase fish. Prenatal Diagnosis 14:787–792.
  • Zumkeller W, Volleth M, Muschke P et al. 2004. Genotype/phenotype analysis in a patient with pure and complete trisomy 12p. American Journal of Medical Genetics 129A:261–264.

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