Araştırma Makalesi
BibTex RIS Kaynak Göster
Yıl 2022, , 149 - 154, 31.12.2022
https://doi.org/10.26650/experimed.1188882

Öz

Kaynakça

  • 1. Goldfarb CA, Shaw N, Steffen JA, Wall LB. The prevalence of congenital hand and upper extremity anomalies based upon the New York congenital malformations registry. J Pediatr Orthop 2017; 37(2): 144-8. [CrossRef] google scholar
  • 2. Ekblom AG, Laurell T, Arner M. Epidemiology of congenital upper limb anomalies in 562 children born in 1997 to 2007: a total population study from Stockholm, Sweden. J Hand Surg Am 2010; 35: 1742-54. [CrossRef] google scholar
  • 3. Oberg KC, Feenstra JM, Manske PR, Tonkin MA. Developmental biology and classification of congenital anomalies of the hand and upper extremity. J Hand Surg Am 2010; 35(12): 2066-76. [CrossRef] google scholar
  • 4. Manske PR, Oberg KC. Classification and developmental biology of congenital anomalies of the hand and upper extremity. J Bone Joint Surg Am 2009; 91(Suppl 4): 3-18. [CrossRef] google scholar
  • 5. Barham G, Clarke NM. Genetic regulation of embryological limb development with relation to congenital limb deformity in humans. J Child Orthop 2008; 2(1): 1-9. [CrossRef] google scholar
  • 6. Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M. Clinical genetics of polydactyly: an updated review. Front Genet 2018; 9: 447. [CrossRef] google scholar
  • 7. Ahmed H, Akbari H, Emami A, Akbari MR. Genetic overview of syndactyly and polydactyly. Plast Reconstr Surg Glob Open 2017; 5(11): 1549. [CrossRef] google scholar
  • 8. Jose R, O'Brien M, Burke F. Congenital hand anomalies. In: Bentley G, editor. European Surgical Orthopaedics and Traumatology. Berlin, Heidelberg: Springer; 2014.p.1653-73. [CrossRef] google scholar
  • 9. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17(5): 405-24. [CrossRef] google scholar
  • 10. De Smet L. IFSSH. International Federation for Societies for Surgery of the Hand JSSH. Japanese Society for Surgery of the Hand. Classification for congenital anomalies of the hand: the IFSSH classification and the JSSH modification. Genet Couns 2002; 13(3): 331-8. google scholar
  • 11. Ezaki M, Baek GH, Horii E, Hovius S. IFSSH scientific committee on congenital conditions. J Hand Surg Eur 2014; 39: 676-8. [CrossRef] google scholar
  • 12. Tonkin MA, Tolerton SK, Quick TJ, Harvey I, Lawson RD, Smith NC, et al. Classification of congenital anomalies of the hand and upper limb: development and assessment of a new system. J Hand Surg Am 2013; 38(9): 1845-53. [CrossRef] google scholar
  • 13. Uzun H, Özdemir FDM, Üstün GG, Sakarya AH, Bitik O, Aksu AE. Oberg-Manske-Tonkin classification of congenital upper extremity anomalies: The first report from Turkey. Ann Plast Surg 2020; 85(3): 245-50. [CrossRef] google scholar
  • 14. Wall LB, McCombe D, Goldfarb CA, Lam WL; ICHAD study group. The Oberg, Manske, and Tonkin classification of congenital upper limb anomalies: A consensus decision-making study for difficult or unclassifiable cases. J Hand Surg Am 2022; S0363-5023(22)423-3. [CrossRef] google scholar
  • 15. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol 2011; 26(7): 1039-56. [CrossRef] google scholar
  • 16. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med 2011; 364(16): 1533-43. [CrossRef] google scholar
  • 17. Hibberd CE, Bowdin S, Arudchelvan Y, Forrest CR, Brakora KA, Marcucio RS, Gong SG. FGFR-associated craniosynostosis syndromes and gastrointestinal defects. Am J Med Genet A 2016; 170(12): 3215-21. [CrossRef] google scholar
  • 18. Shah HH, Doddabasappa SN, Joseph B. Congenital posteromedial bowing of the tibia: a retrospective analysis of growth abnormalities in the leg. J Pediatr Orthop B 2009; 18(3): 120-8. [CrossRef] google scholar
  • 19. Moran SL, Jensen M, Bravo C. Amniotic band syndrome of the upper extremity: diagnosis and management. J Am Acad Orthop Surg 2007; 15: 397-407. [CrossRef] google scholar
  • 20. Gogola, G. Constriction Band Syndromes. In: Abzug J, Kozin S, Zlotolow D, editors. The Pediatric Upper Extremity. New York: Springer; 2015.p.413-29. [CrossRef] google scholar
  • 21. Ermito S, Dinatale A, Carrara S, Cavaliere A, Imbruglia L, Recupero S. Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography. J Prenat Med 2009; 3(2): 18-22. google scholar

Fetal Hand Anomalies: 18 Cases Diagnosed Between 2020-2022 from a Single Tertiary Care Center

Yıl 2022, , 149 - 154, 31.12.2022
https://doi.org/10.26650/experimed.1188882

Öz

Objective: The aim of this study was to present and investigate fetal cases with hand anomalies by discussing their antenatal and postmortem findings.

Materials and Methods: This retrospective review re-evaluates fetal cases identified antenatally with hand anomalies including polydactyly, syndactyly, reduction defects, and oligodactyly. The following data were collected from the patients’ medical records: Demographic information, family histories, X-ray images, photographs, and cytogenetic/molecular findings. The study also performed a chromosome analysis, array-comparative genomic hybridization (CGH), and Sanger sequencing of FGFR2 and GLI3 genes.

Results: This study involved 18 cases with hand anomalies, all of which were diagnosed antenatally. Three cases were diagnosed with Greig cephalopolysyndactyly, Apert Syndrome, and triploidy, respectively.

Conclusions: Fetal ultrasonography is the most valuable tool for providing prenatal diagnosis. Prenatal detection of hand anomalies causes great anxiety for parents; therefore, making an accurate diagnosis list is important for the prenatal period. Prenatal diagnosis and management of hand anomalies must involve a multidisciplinary team composed of a perinatologist, a clinical geneticist, and a hand surgeon.

Kaynakça

  • 1. Goldfarb CA, Shaw N, Steffen JA, Wall LB. The prevalence of congenital hand and upper extremity anomalies based upon the New York congenital malformations registry. J Pediatr Orthop 2017; 37(2): 144-8. [CrossRef] google scholar
  • 2. Ekblom AG, Laurell T, Arner M. Epidemiology of congenital upper limb anomalies in 562 children born in 1997 to 2007: a total population study from Stockholm, Sweden. J Hand Surg Am 2010; 35: 1742-54. [CrossRef] google scholar
  • 3. Oberg KC, Feenstra JM, Manske PR, Tonkin MA. Developmental biology and classification of congenital anomalies of the hand and upper extremity. J Hand Surg Am 2010; 35(12): 2066-76. [CrossRef] google scholar
  • 4. Manske PR, Oberg KC. Classification and developmental biology of congenital anomalies of the hand and upper extremity. J Bone Joint Surg Am 2009; 91(Suppl 4): 3-18. [CrossRef] google scholar
  • 5. Barham G, Clarke NM. Genetic regulation of embryological limb development with relation to congenital limb deformity in humans. J Child Orthop 2008; 2(1): 1-9. [CrossRef] google scholar
  • 6. Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M. Clinical genetics of polydactyly: an updated review. Front Genet 2018; 9: 447. [CrossRef] google scholar
  • 7. Ahmed H, Akbari H, Emami A, Akbari MR. Genetic overview of syndactyly and polydactyly. Plast Reconstr Surg Glob Open 2017; 5(11): 1549. [CrossRef] google scholar
  • 8. Jose R, O'Brien M, Burke F. Congenital hand anomalies. In: Bentley G, editor. European Surgical Orthopaedics and Traumatology. Berlin, Heidelberg: Springer; 2014.p.1653-73. [CrossRef] google scholar
  • 9. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17(5): 405-24. [CrossRef] google scholar
  • 10. De Smet L. IFSSH. International Federation for Societies for Surgery of the Hand JSSH. Japanese Society for Surgery of the Hand. Classification for congenital anomalies of the hand: the IFSSH classification and the JSSH modification. Genet Couns 2002; 13(3): 331-8. google scholar
  • 11. Ezaki M, Baek GH, Horii E, Hovius S. IFSSH scientific committee on congenital conditions. J Hand Surg Eur 2014; 39: 676-8. [CrossRef] google scholar
  • 12. Tonkin MA, Tolerton SK, Quick TJ, Harvey I, Lawson RD, Smith NC, et al. Classification of congenital anomalies of the hand and upper limb: development and assessment of a new system. J Hand Surg Am 2013; 38(9): 1845-53. [CrossRef] google scholar
  • 13. Uzun H, Özdemir FDM, Üstün GG, Sakarya AH, Bitik O, Aksu AE. Oberg-Manske-Tonkin classification of congenital upper extremity anomalies: The first report from Turkey. Ann Plast Surg 2020; 85(3): 245-50. [CrossRef] google scholar
  • 14. Wall LB, McCombe D, Goldfarb CA, Lam WL; ICHAD study group. The Oberg, Manske, and Tonkin classification of congenital upper limb anomalies: A consensus decision-making study for difficult or unclassifiable cases. J Hand Surg Am 2022; S0363-5023(22)423-3. [CrossRef] google scholar
  • 15. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol 2011; 26(7): 1039-56. [CrossRef] google scholar
  • 16. Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med 2011; 364(16): 1533-43. [CrossRef] google scholar
  • 17. Hibberd CE, Bowdin S, Arudchelvan Y, Forrest CR, Brakora KA, Marcucio RS, Gong SG. FGFR-associated craniosynostosis syndromes and gastrointestinal defects. Am J Med Genet A 2016; 170(12): 3215-21. [CrossRef] google scholar
  • 18. Shah HH, Doddabasappa SN, Joseph B. Congenital posteromedial bowing of the tibia: a retrospective analysis of growth abnormalities in the leg. J Pediatr Orthop B 2009; 18(3): 120-8. [CrossRef] google scholar
  • 19. Moran SL, Jensen M, Bravo C. Amniotic band syndrome of the upper extremity: diagnosis and management. J Am Acad Orthop Surg 2007; 15: 397-407. [CrossRef] google scholar
  • 20. Gogola, G. Constriction Band Syndromes. In: Abzug J, Kozin S, Zlotolow D, editors. The Pediatric Upper Extremity. New York: Springer; 2015.p.413-29. [CrossRef] google scholar
  • 21. Ermito S, Dinatale A, Carrara S, Cavaliere A, Imbruglia L, Recupero S. Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography. J Prenat Med 2009; 3(2): 18-22. google scholar
Toplam 21 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Klinik Tıp Bilimleri
Bölüm Araştırma Makalesi
Yazarlar

Ayça Dilruba Aslanger 0000-0003-1770-1762

Tugba Kalayci 0000-0002-9963-5916

Tuğba Saraç Sivrikoz 0000-0001-5482-9429

Seher Başaran 0000-0001-8668-4746

Oya Uyguner 0000-0002-2035-4338

Yayımlanma Tarihi 31 Aralık 2022
Gönderilme Tarihi 17 Ekim 2022
Yayımlandığı Sayı Yıl 2022

Kaynak Göster

Vancouver Aslanger AD, Kalayci T, Saraç Sivrikoz T, Başaran S, Uyguner O. Fetal Hand Anomalies: 18 Cases Diagnosed Between 2020-2022 from a Single Tertiary Care Center. Experimed. 2022;12(3):149-54.