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

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

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.

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

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.

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

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Ali KARAMAN Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2008
Yayınlandığı Sayı Yıl 2008, Cilt 39, Sayı 3

Kaynak Göster

Bibtex @ { zktipb236936, journal = {Zeynep Kamil Tıp Bülteni}, issn = {1300-7971}, eissn = {2148-4864}, address = {}, publisher = {Zeynep Kamil Kadın ve Çocuk Hastalıkları EAH}, year = {2008}, volume = {39}, number = {3}, pages = {149 - 151}, doi = {10.16948/zktb.81314}, title = {İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu}, key = {cite}, author = {Karaman, Ali} }
APA Karaman, A. (2008). İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu . Zeynep Kamil Tıp Bülteni , 39 (3) , 149-151 . Retrieved from https://dergipark.org.tr/tr/pub/zktipb/issue/22068/236936
MLA Karaman, A. "İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu" . Zeynep Kamil Tıp Bülteni 39 (2008 ): 149-151 <https://dergipark.org.tr/tr/pub/zktipb/issue/22068/236936>
Chicago Karaman, A. "İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu". Zeynep Kamil Tıp Bülteni 39 (2008 ): 149-151
RIS TY - JOUR T1 - İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu AU - AliKaraman Y1 - 2008 PY - 2008 N1 - DO - T2 - Zeynep Kamil Tıp Bülteni JF - Journal JO - JOR SP - 149 EP - 151 VL - 39 IS - 3 SN - 1300-7971-2148-4864 M3 - UR - Y2 - 2022 ER -
EndNote %0 Zeynep Kamil Tıp Bülteni İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu %A Ali Karaman %T İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu %D 2008 %J Zeynep Kamil Tıp Bülteni %P 1300-7971-2148-4864 %V 39 %N 3 %R %U
ISNAD Karaman, Ali . "İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu". Zeynep Kamil Tıp Bülteni 39 / 3 (Nisan 2008): 149-151 .
AMA Karaman A. İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2008; 39(3): 149-151.
Vancouver Karaman A. İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2008; 39(3): 149-151.
IEEE A. Karaman , "İzole postaksiyal politaktili tip A/B'li bir çocuk: Olgu sunumu", Zeynep Kamil Tıp Bülteni, c. 39, sayı. 3, ss. 149-151, Nis. 2008, doi:10.16948/zktb.81314