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

Year 2022, , 149 - 154, 31.12.2022

Ayça Dilruba Aslanger , Tugba Kalayci , Tuğba Saraç Sivrikoz , Seher Başaran , Oya Uyguner

https://doi.org/10.26650/experimed.1188882

Abstract

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.

Keywords

Polydactyly, syndactyly, prenatal diagnosis

References

• 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