Complex radial polydactyly in a Chinese family: inclusion of triphalangism, triplication, and syndactyly.
Polydactyly
phenotype
syndactyly
Journal
Annals of translational medicine
ISSN: 2305-5839
Titre abrégé: Ann Transl Med
Pays: China
ID NLM: 101617978
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
received:
02
04
2021
accepted:
01
08
2021
entrez:
17
9
2021
pubmed:
18
9
2021
medline:
18
9
2021
Statut:
ppublish
Résumé
Few studies have investigated families in which multiple individuals over three or more generations are affected by radial polydactyly and syndactyly. This report describes an extremely rare family in which nine individuals across six generations were affected by complex radial polydactyly. We investigated a six-generation pedigree with radial polydactyly including triplication, triphalangism, hypoplasia, and symphalangism. There was a total of 34 individuals (including their spouses) in the family and 11 individuals had polydactyly. The average age of the patients ranged from 7 months to 96 years. The characteristic feature of the malformation in these patients was described. Two patients underwent surgical resection for radial supernumerary thumbs. The Bilhout-Cloquet technique and On-top-plasty technique were used to reconstruct the nail and the joints. The patients in this family presented with thumb duplication and triphalangism in both hands, including a variety of deformities, such as triplication, triphalangism, hypoplasia, and symphalangism. Syndactyly and ulnar polydactyly were also frequently observed. Two patients who underwent surgical treatment showed good hand and thumb function at the 8- and 2-year post-operative follow-up, respectively. The present study reported various mixed phenotypes including triplication, triphalangism, hypoplasia, and symphalangism within the same family which may represent a rare type of polydactyly. Surgical resection of extra digits to achieve mobility of the thumb is the main treatment option for radial polydactyly. Given the ulnar thumb is better developed, the radial thumb is typically resected in patients with radial polydactyly. These reconstructive principles are fit for this Chinese family as well.
Sections du résumé
BACKGROUND
BACKGROUND
Few studies have investigated families in which multiple individuals over three or more generations are affected by radial polydactyly and syndactyly. This report describes an extremely rare family in which nine individuals across six generations were affected by complex radial polydactyly.
METHODS
METHODS
We investigated a six-generation pedigree with radial polydactyly including triplication, triphalangism, hypoplasia, and symphalangism. There was a total of 34 individuals (including their spouses) in the family and 11 individuals had polydactyly. The average age of the patients ranged from 7 months to 96 years. The characteristic feature of the malformation in these patients was described. Two patients underwent surgical resection for radial supernumerary thumbs. The Bilhout-Cloquet technique and On-top-plasty technique were used to reconstruct the nail and the joints.
RESULTS
RESULTS
The patients in this family presented with thumb duplication and triphalangism in both hands, including a variety of deformities, such as triplication, triphalangism, hypoplasia, and symphalangism. Syndactyly and ulnar polydactyly were also frequently observed. Two patients who underwent surgical treatment showed good hand and thumb function at the 8- and 2-year post-operative follow-up, respectively.
CONCLUSIONS
CONCLUSIONS
The present study reported various mixed phenotypes including triplication, triphalangism, hypoplasia, and symphalangism within the same family which may represent a rare type of polydactyly. Surgical resection of extra digits to achieve mobility of the thumb is the main treatment option for radial polydactyly. Given the ulnar thumb is better developed, the radial thumb is typically resected in patients with radial polydactyly. These reconstructive principles are fit for this Chinese family as well.
Identifiants
pubmed: 34532433
doi: 10.21037/atm-21-2773
pii: atm-09-16-1296
pmc: PMC8422142
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1296Informations de copyright
2021 Annals of Translational Medicine. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://dx.doi.org/10.21037/atm-21-2773). The authors have no conflicts of interest to declare.
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