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Original Research
Open AccessPallister-Killian Syndrome (PKS): Clinical Case Report
Pallister-Killian Syndrome (PKS): Clinical Case Report
1Intern of Special Patients Study and Treatment Group (GEAPE -USP), Departament of Orthodontics and Pediatric Dentistry, School of Dentistry, São Paulo University (USP)
2Special Pacient Study and Treatment Group (GEAPE-USP), School of Medicine - Federal University of São Paulo (UNIFESP)
3Pediatric Dentistry, Departament of Orthodontics and Pediatric Dentistry School of Dentistry, São Paulo University (USP)
*Corresponding Author(s): Adriana de Oliveira Lira Ortega E-mail: aliraort@uol.com.br
Abstract
Pallister-Killian Syndrome is a rare dysmorphic condition characterized by specific clinical manifes-tations and tetrasomy 12p. This paper focuses on the general and orofacial clinical manifestations.
Cite and Share
Ana Laura Andrade Dias de Oliveira,Adriana de Oliveira Lira Ortega,Ana Lídia Ciamponi. Pallister-Killian Syndrome (PKS): Clinical Case Report. Journal of Clinical Pediatric Dentistry. 2006. 30(3);257-260.
References
1. Butler MG, Dev VG. Pallister-Killian Syndrome Detected by Fluorescence in situ Hybridization. Am J Med Genet 57: 498–500, 1995.
2. Chiesa J., Hoffet M, Rousseau O, Bourgeois JM, Sarda P, Mares P et al. Pallister-Killian Syndrome [i (12p)]: first pre-natal diag-nosis using cordocentesis in the second trimester confirmed by in situ hybridization. Clin Genet 54: 294–302, 1998
3. Cormier-Daire V, Le Merrer M, Gigarel N, Morichon N, Prieur M, Lyonnet S et al. Prezygotic Origin of the Isochromosome 12p in Pallister-Killian Syndrome. Am J Med Genet 69: 166–168, 1997.
4. Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L et al. Mild Phenotype in a 15-Year-Old Boy With Pallister-Killian Syndrome. Am J Med Genet 116A: 90–93, 2003.
5. Grech V, Parascandalo R, Cuschieri A. Tetralogy of Fallot in a Patient with Killian-Pallister Syndrome. Pediatr Cardiol 20: 134–135, 1999.
6. Mauceri L, Sorge G, Incorpora G, Pavone L. Pallister-Killian Syndrome : Case Report With Pineal Tumor. Am J Med Genet 95: 75–78, 2000
7. Schubert R, Viersbach R, Eggermann T, Hansmann M, and Schwanitz G. Report of Two New Cases of Pallister-Killian Syndrome Confirmed by FISH : Tissue-Specific Mosaicism and Loss of i(12p) by In Vitro Selection. Am J Med Genet 72: 106–110, 1997.
8. Woodman BF, Jordan MA, Moller LI, Cartwright JD, and De Ravel TJL. The Pallister-Killian Syndrome In An African Individual. Genetic Counseling 6: 33–36, 1995.
9. Lacobucci T, Galeone M, De Francisci G. Anaesthetic manage-ment of a child with Pallister-Killian syndrome. Paediatr Anaesth 13: 457–459, 2003.
10. Leube B, Majewski F, Gebauer J, Royer-Pokora B. Clnical, Cytogenetic, and Molecular Observations in a Patient With Pallister-Killian-Syndrome With an Unusual Karyotype. Am J Med Genet 123A: 296–300, 2003
11. Veldman A, Schlösser R, Allendorf A, Fischer D, Heller K, Schaeff B et el. Bilateral Congenital Diaphragmatic Hernia: Differentiation Between Pallister-Killian and Fryns Syndromes. Am J Med Genet 111: 86–87, 2002.
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