BibTex RIS Kaynak Göster

İsolated postaxial polydactyly type A/B in a child: Case report

Yıl 2008, Cilt: 39 Sayı: 3, 149 - 151, 01.04.2008

Ali Karaman

Öz

Isolated Postaxial Polydactyly Type A/B in A Child: Case Report Postaxialpolydactyly (PAP) is characterized by fifth digit duplications in hands and/ or feet. Twophenotypic varieties have been described. In type A, the extra digit is fully developed. A rudimentary extra fifth digit charaterises type B. Isolated PAP is usually autosomal dominant inheritance. Herein we reported a rare case with isolated PAP who had both hands and feet with 24 digits in total.

Anahtar Kelimeler

-

Kaynakça

  • . Stevenson RE, Hall J, Goodman RM . The Polydactylies. In: Stevenson RE, Hall J, Goodman RM. Human malformations and related anomalies. Oxford University Press, New York, 1993; 818828
  • 2. Temtamy SA, McKusick VA . The genetics of hand malformations. Alan R. Liss, New York, 1978;.364- 372; 376-379; 391- 405
  • 3. Grzeschik KH. Human limb malformations; an approach to the molecular basis of development. IntJDevBiol 2002;46:983-991
  • 4. Giofre F, Caracciolo V, Zanotti M, Polli M, De Giovanni AM. Polydactyly in a Murgese horse: a case report. J Equine Vet Sci 2004; 24: 248-250
  • 5. Kocer U, Aksoy HM, Tiftikcioglu YO, Karaaslan O. Polydactyly: a study of four generations of a Turkish family including an affected member with bilateral cleft lip andpalate. Scand JPlast Reconstr Surg Hand Surg 2002; 36:284-288
  • 6. Miura T, Nakamura R, Imamura T. Polydactyly ofthe hands andfeet. J Hand Surg 1987;12: 474476
  • 7. Temtamy SA. Polydactyly, postaxial. In Buyse ML (eds). Birth defects encyclopaedia. MA. Blackwell Scientific, Cambridge, 1990; 1397,1398
  • 8. Castilla EE, Dutra MG, Fonseca RL, Paz JE. Hand andfoot postaxial polydactyly: Two differents traits. Am J Med Genet 1997;73:48-54
  • 9. Castilla EE, Lugarinho R, da Graca Dutra M, Salgado LJ. Associated anomalies in individuals with polydactyly. Am J Med Genet 1998; 80: 459-465
  • 10. Castilla EE, Paz J, Mutchinick O, Munoz E, Giorgiutti E, Gelman Z. Polydactyly: a genetic study in South America. Am J Hum Genet 1973; 25: 405-412
  • 11. Scott-EmuakporAB, Madueke E-DN. The study of genetic variation in Nigeria. Hum Hered 1976,26: 198-202
  • 12. Zguricas J, Bakker WF, Heus H, Lindhout D, HeutinkP, Hovius SE. Genetics of limb development and congenital hand malformations. Plast Reconstr Surg 1998; 101: 1126- 1135
  • 13. Radhakrishna U,Blouin J-L, MehenniHetal. Mapping one form ofautosomal dominant postaxial Polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. Am J Hum Genet 1997, 60: 597-604
  • 14. Radhakrishna U, Wild A, Greschik KH, Antanorakis SE . Mutation in GLI3 in postaxial polydactyly type A. Nat Genet 1997; 17: 269-271
  • 15. Radhakrishna U, BornholdtD, ScottHSetal. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominantpreaxialpolydactyly type-IV and postaxial polydactyly type-A/B;no phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 1999; 65: 645-655
  • 16. Akarsu AN, Ozbas F, Kostakoglu N. Mapping of the second locus of postaxial polydactyly type A ( PAP-A2) to chromosome 13q21-q32. Am J Hum Genet 1997; 61: A265
  • 17. Zhao H, Tian Y Breedveld G, Huang S, Zou Y, Chai J et al. Postaxial polydactyly type A/B (PAPA/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. Eur J Hum Genet 2002; 10:162166
  • 18. Galjaard H RJ, Smits AP, Tuerlings JH, Bais AG, BertoliAvellaAM, Breedveld G et al. A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34. Eur J Hum Genet 2003; 11: 409-415
  • 19. Kenneth lyons Jones. Bardet-Biedl syndrome: Smith's Recognizable Patterns of Human Malformation 5th edition, saunders company, Philadelphia, 1997; 112-115; 184-185; 334-337; 374-375; 424-425; 590-591

İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu

Yıl 2008, Cilt: 39 Sayı: 3, 149 - 151, 01.04.2008

Ali Karaman

Öz

Postaksiyalpolidaktili (PAP) ellerin ve/ veya ayakların beşinçi parmağının duplikasyonları ile karaterizedir. îkifenotipik çeşit tanımlanmıştır. Tip A, ekstra parmak tam gelişmiştir. Tip B, beşinci parmağın rudimenter bir eki ile karakterizedir. îsole PAP genellikle otozomal dominant kalıtımlıdır. Biz burada her iki elinde ve ayağında total 24 parmağa sahip izole PAP 'lı nadir bir olguyu rapor ettik.

Anahtar Kelimeler

-

Kaynakça

  • . Stevenson RE, Hall J, Goodman RM . The Polydactylies. In: Stevenson RE, Hall J, Goodman RM. Human malformations and related anomalies. Oxford University Press, New York, 1993; 818828
  • 2. Temtamy SA, McKusick VA . The genetics of hand malformations. Alan R. Liss, New York, 1978;.364- 372; 376-379; 391- 405
  • 3. Grzeschik KH. Human limb malformations; an approach to the molecular basis of development. IntJDevBiol 2002;46:983-991
  • 4. Giofre F, Caracciolo V, Zanotti M, Polli M, De Giovanni AM. Polydactyly in a Murgese horse: a case report. J Equine Vet Sci 2004; 24: 248-250
  • 5. Kocer U, Aksoy HM, Tiftikcioglu YO, Karaaslan O. Polydactyly: a study of four generations of a Turkish family including an affected member with bilateral cleft lip andpalate. Scand JPlast Reconstr Surg Hand Surg 2002; 36:284-288
  • 6. Miura T, Nakamura R, Imamura T. Polydactyly ofthe hands andfeet. J Hand Surg 1987;12: 474476
  • 7. Temtamy SA. Polydactyly, postaxial. In Buyse ML (eds). Birth defects encyclopaedia. MA. Blackwell Scientific, Cambridge, 1990; 1397,1398
  • 8. Castilla EE, Dutra MG, Fonseca RL, Paz JE. Hand andfoot postaxial polydactyly: Two differents traits. Am J Med Genet 1997;73:48-54
  • 9. Castilla EE, Lugarinho R, da Graca Dutra M, Salgado LJ. Associated anomalies in individuals with polydactyly. Am J Med Genet 1998; 80: 459-465
  • 10. Castilla EE, Paz J, Mutchinick O, Munoz E, Giorgiutti E, Gelman Z. Polydactyly: a genetic study in South America. Am J Hum Genet 1973; 25: 405-412
  • 11. Scott-EmuakporAB, Madueke E-DN. The study of genetic variation in Nigeria. Hum Hered 1976,26: 198-202
  • 12. Zguricas J, Bakker WF, Heus H, Lindhout D, HeutinkP, Hovius SE. Genetics of limb development and congenital hand malformations. Plast Reconstr Surg 1998; 101: 1126- 1135
  • 13. Radhakrishna U,Blouin J-L, MehenniHetal. Mapping one form ofautosomal dominant postaxial Polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. Am J Hum Genet 1997, 60: 597-604
  • 14. Radhakrishna U, Wild A, Greschik KH, Antanorakis SE . Mutation in GLI3 in postaxial polydactyly type A. Nat Genet 1997; 17: 269-271
  • 15. Radhakrishna U, BornholdtD, ScottHSetal. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominantpreaxialpolydactyly type-IV and postaxial polydactyly type-A/B;no phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 1999; 65: 645-655
  • 16. Akarsu AN, Ozbas F, Kostakoglu N. Mapping of the second locus of postaxial polydactyly type A ( PAP-A2) to chromosome 13q21-q32. Am J Hum Genet 1997; 61: A265
  • 17. Zhao H, Tian Y Breedveld G, Huang S, Zou Y, Chai J et al. Postaxial polydactyly type A/B (PAPA/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. Eur J Hum Genet 2002; 10:162166
  • 18. Galjaard H RJ, Smits AP, Tuerlings JH, Bais AG, BertoliAvellaAM, Breedveld G et al. A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34. Eur J Hum Genet 2003; 11: 409-415
  • 19. Kenneth lyons Jones. Bardet-Biedl syndrome: Smith's Recognizable Patterns of Human Malformation 5th edition, saunders company, Philadelphia, 1997; 112-115; 184-185; 334-337; 374-375; 424-425; 590-591
Toplam 19 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Ali Karaman Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2008
Yayımlandığı Sayı Yıl 2008 Cilt: 39 Sayı: 3

Kaynak Göster

APA Karaman, A. (2008). İzole postaksiyal politaktili tip A/B’li bir çocuk: Olgu sunumu. Zeynep Kamil Tıp Bülteni, 39(3), 149-151. https://doi.org/10.16948/zktb.81314
AMA Karaman A. İzole postaksiyal politaktili tip A/B’li bir çocuk: Olgu sunumu. Zeynep Kamil Tıp Bülteni. Nisan 2008;39(3):149-151. doi:10.16948/zktb.81314
Chicago Karaman, Ali. “İzole Postaksiyal Politaktili Tip A/B’li Bir çocuk: Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 39, sy. 3 (Nisan 2008): 149-51. https://doi.org/10.16948/zktb.81314.
EndNote Karaman A (01 Nisan 2008) İzole postaksiyal politaktili tip A/B’li bir çocuk: Olgu sunumu. Zeynep Kamil Tıp Bülteni 39 3 149–151.
IEEE A. Karaman, “İzole postaksiyal politaktili tip A/B’li bir çocuk: Olgu sunumu”, Zeynep Kamil Tıp Bülteni, c. 39, sy. 3, ss. 149–151, 2008, doi: 10.16948/zktb.81314.
ISNAD Karaman, Ali. “İzole Postaksiyal Politaktili Tip A/B’li Bir çocuk: Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 39/3 (Nisan 2008), 149-151. https://doi.org/10.16948/zktb.81314.
JAMA Karaman A. İzole postaksiyal politaktili tip A/B’li bir çocuk: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2008;39:149–151.
MLA Karaman, Ali. “İzole Postaksiyal Politaktili Tip A/B’li Bir çocuk: Olgu Sunumu”. Zeynep Kamil Tıp Bülteni, c. 39, sy. 3, 2008, ss. 149-51, doi:10.16948/zktb.81314.
Vancouver Karaman A. İzole postaksiyal politaktili tip A/B’li bir çocuk: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2008;39(3):149-51.