Clinical and radiological findings in Pallister-Killian syndrome - PubMed

Case Reports

Clinical and radiological findings in Pallister-Killian syndrome

Saumya Jamuar et al. Eur J Med Genet. 2012 Mar.

Abstract

Pallister-Killian syndrome (PKS) is a potentially lethal disorder with facial dysmorphism, pigmentary skin anomalies, developmental delay and major visceral anomalies, such as diaphragmatic hernia, anorectal malformation, and congenital heart disease. PKS is causally associated with mosaic tetrasomy of chromosome 12p. A routine chromosome analysis in peripheral lymphocytes usually fails to detect the mosaic state. A prompt diagnosis rests on clinical awareness and a subsequent chromosome or molecular analysis in fibroblasts, buccal mucosal cells, or bone marrow cells. We report here on three infants with PKS. One infant had aortic dilatation, a previously unreported association in PKS. More importantly, all infants showed a recognizable, though mild, pattern of skeletal changes mainly affecting axial bones, including delayed ossification of the vertebral bodies and pubic bones, flared anterior ribs, and broad metaphyses of the long bones, particularly of the femora. These skeletal changes should be considered as a useful diagnostic sign in PKS. Awareness of the axial skeletal alterations can be helpful in prompting clinicians to search for mosaic tetrasomy 12p and perform chromosomal analysis in appropriate tissue types.

Similar articles

• Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.

  Libotte F, Bizzoco D, Gabrielli I, Mesoraca A, Cignini P, Vitale SG, Marilli I, Gulino FA, Rapisarda AM, Giorlandino C. Libotte F, et al. Taiwan J Obstet Gynecol. 2016 Dec;55(6):863-866. doi: 10.1016/j.tjog.2016.07.010. Taiwan J Obstet Gynecol. 2016. PMID: 28040135

• Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

  Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A, Haldeman-Englert C, Saitta SC, Zackai EH, Spinner NB, Krantz ID. Izumi K, et al. Am J Med Genet A. 2012 Dec;158A(12):3033-45. doi: 10.1002/ajmg.a.35500. Epub 2012 Nov 20. Am J Med Genet A. 2012. PMID: 23169682

• Pallister-Killian syndrome: report of one case.

  Wu HC, Lin LH, Tsai LP, Huang CH, Hung KL, Liao HT. Wu HC, et al. Acta Paediatr Taiwan. 2006 May-Jun;47(3):139-41. Acta Paediatr Taiwan. 2006. PMID: 17078467

• Pallister-Killian syndrome.

  Izumi K, Krantz ID. Izumi K, et al. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):406-13. doi: 10.1002/ajmg.c.31423. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25425112 Review.

• [Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review].

  Desseauve D, Legendre M, Dugué-Maréchaud M, Vequeau-Goua V, Pierre F. Desseauve D, et al. Gynecol Obstet Fertil. 2016 Apr;44(4):200-6. doi: 10.1016/j.gyobfe.2016.03.002. Epub 2016 Mar 28. Gynecol Obstet Fertil. 2016. PMID: 27032761 Review. French.

Cited by

• Pallister-Killian syndrome.

  Srinivasan A, Wright D. Srinivasan A, et al. Am J Case Rep. 2014 May 7;15:194-8. doi: 10.12659/AJCR.890614. eCollection 2014. Am J Case Rep. 2014. PMID: 24826207 Free PMC article.

• Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.

  Eid MM, Eid OM, Abdel-Hadi S, Hassib N, Madian A, Afifi HH, Abdel-Salam GMH. Eid MM, et al. J Pediatr Genet. 2020 Sep;9(3):207-210. doi: 10.1055/s-0039-3400489. Epub 2019 Nov 21. J Pediatr Genet. 2020. PMID: 32714624 Free PMC article.

• Somatic mutations in cerebral cortical malformations.

  Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Jamuar SS, et al. N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432. N Engl J Med. 2014. PMID: 25140959 Free PMC article.

• Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

  Arghir A, Popescu R, Resmerita I, Budisteanu M, Butnariu LI, Gorduza EV, Gramescu M, Panzaru MC, Papuc SM, Sireteanu A, Tutulan-Cunita A, Rusu C. Arghir A, et al. Genes (Basel). 2021 May 26;12(6):811. doi: 10.3390/genes12060811. Genes (Basel). 2021. PMID: 34073526 Free PMC article. Review.

• Somatic mosaicism: implications for disease and transmission genetics.

  Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Campbell IM, et al. Trends Genet. 2015 Jul;31(7):382-92. doi: 10.1016/j.tig.2015.03.013. Epub 2015 Apr 21. Trends Genet. 2015. PMID: 25910407 Free PMC article. Review.

Publication types

MeSH terms

Supplementary concepts

LinkOut - more resources

• Full Text Sources

  • ClinicalKey
  • Elsevier Science

• Miscellaneous

  • NCI CPTAC Assay Portal