Muñoz-Aizpuru E, Reyes-Esparza A, Aizpuru-Akel E, Marquez-Espriella C, Davila-Diaz R, Fernández-Sobrino G

Language: Spanish
References: 15
Page: 130-133
PDF size: 838.29 Kb.

ABSTRACT

Polydactyly is a common congenital anomaly of the extremities, and may occur as an isolated finding or as part of a genetic syndrome. The aim of this study was to describe the clinical characteristics of pediatric patients diagnosed with polydactyly at the National Institute of Pediatrics, and to analyze its association with genetic syndromes. A retrospective, observational, descriptive study was carried out in 64 pediatric patients diagnosed with polydactyly in the National Institute of Pediatrics in Mexico City between 2018 and 2024. The variables analyzed included sex, age at diagnosis, location (hand, foot, or both), type (preaxial, mesoaxial, postaxial), affected side, morphological complexity (rudimentary, partial, or complete) and presence of associated syndromes. Descriptive statistic and crosstabulations were performed using IBM SPSS Statistics. Preaxial polydactyly was the most frequent type (57.8%), followed by postaxial (40.6%). The mean age at diagnosis was 2.3 years (range: 0-12). Polydactyly was more frequent in the hand (59.4%) and on the right side (53.1%). Syndromic association was identified in 28.1% of cases, more frequently in bilateral involvement (50%) and in cases affecting both hands and feet (60%). All syndromic cases were associated with postaxial polydactyly. Identified syndromes included facioauriculovertebral syndrome, phenylketonuria, congenital hypothyroidism and unclassified dysmorphisms. Although preaxial polydactyly was more frequent, postaxial polydactyly showed a stronger association with genetic syndromes, particularly in bilateral or multiple presentations. These findings highlight the need for multidisciplinary evaluation and genetic counseling in selected cases.

REFERENCES

1. Castilla EE, Lugarinho R, da Graca Dutra M, Salgado LJ. Associated anomalies in individuals with polydactyly. Am J Med Genet. 1998; 80 (5): 459-465.

2. Orioli IM, Castilla EE. Epidemiology of polydactyly: frequency, ethnic variability, and association with syndromes. Birth Defects Res A Clin Mol Teratol. 2010; 88 (12): 938-945.

3. Malik S. Polydactyly: phenotypes, genetics and classification. Clin Genet. 2014; 85 (3): 203-212.

4. Temtamy SA, McKusick VA. The genetics of hand malformations. Birth Defects Orig Artic Ser. 1978; 14 (3): 1-619.

5. Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

6. Ghani I, Qamar R, Husnain T. Mesoaxial polydactyly: a review of genetics and clinical implications. Am J Med Genet A. 2015; 167A (4): 777-787.

7. Biesecker LG. Polydactyly: how many disorders and how many genes? 2010 update. Dev Dyn. 2011; 240 (5): 931-942.

8. Castilla EE, López-Camelo JS, Campaña H, Paz JE, Orioli IM. Regional analysis of polydactyly in South America. Am J Med Genet. 1996; 63 (4): 449-453.

9. Temtamy SA, Aglan MS. Brachydactyly. Orphanet J Rare Dis. 2008; 3: 15.

10. Malik S, Grzeschik KH. A novel locus for isolated postaxial polydactyly type A on chromosome 13q21-q32. Am J Hum Genet. 2008; 82 (3): 653-658.

11. Umair M, Ahmad F, Bilal M, Ahmad W. A mutation in ZNF141 gene in a Pakistani family with postaxial polydactyly. J Hum Genet. 2017; 62 (5): 599-602.

12. Uchiyama S, Kato H, Sasaki T, Usui M. Surgical treatment of polydactyly of the fingers and toes. J Hand Surg Am. 2012; 37 (8): 1551-1556.

13. Tatar EC, Ocal B, Korkmaz H, Saylam G, Ozdek A, Korkmaz M. A rare association: postaxial polydactyly and Ellis-van Creveld syndrome. Int J Pediatr Otorhinolaryngol. 2012; 76 (2): 267-270.

14. Stelling F, Gebert P, Wenz W, Kasten P, Germann G, Fischer S. Congenital hand differences: an epidemiological study. J Hand Surg Eur Vol. 2018; 43 (5): 493-498.

15. Al-Qattan MM. Classification of polydactyly: an overview. Hand Surg Rehabil. 2020; 39 (5): 343-348.