Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies.
Clubfeet [MeSH]
Clubfoot [MeSH]
Congenital talipes equinovarus
Infant
Newborn [MeSH]
Journal
Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759
Informations de publication
Date de publication:
14 Nov 2023
14 Nov 2023
Historique:
received:
29
05
2023
accepted:
05
11
2023
medline:
16
11
2023
pubmed:
15
11
2023
entrez:
15
11
2023
Statut:
epublish
Résumé
Congenital clubfoot is a fairly common and severe congenital malformation, most often of idiopathic origin. A smaller percentage of cases is related to chromosomal abnormalities and genetic syndromes. It is estimated that 0.5/1000 newborns are affected worldwide, with a male to female ratio of 2:1 and greater distribution in developing countries (80%). The "European Surveillance of Congenital Anomalies (EUROCAT)" reported clubfoot prevalence in European newborns, but data regarding Italy are missing or poor. We aim to provide detailed data on clubfoot incidence according to the Apulian Regional Registry on Congenital Malformations and to report current knowledge on clubfoot genetic factors. We extrapolated data from the Regional Registry of Congenital Malformations to evaluate incidence and prevalence of congenital clubfoot in Apulia, Italy over a period of four years (2015-2018). We also performed a narrative review focusing on genetic mutations leading to congenital clubfoot. Over the period from 2015 to 2018 in Apulia, Italy, 124,017 births were recorded and 209 cases of clubfoot were found, accounting for an incidence rate of 1.7/1,000 and a prevalence rate of 1.6/1,000. Six families of genes have been reported to have an etiopathogenetic role on congenital clubfoot. Incidence and prevalence of congenital clubfoot in Apulia, Italy, are comparable with those reported in the other Italian regions but higher than those reported in previous studies from Europe. Genetic studies to better classify congenital clubfoot in either syndromic or isolated forms are desirable.
Sections du résumé
BACKGROUND
BACKGROUND
Congenital clubfoot is a fairly common and severe congenital malformation, most often of idiopathic origin. A smaller percentage of cases is related to chromosomal abnormalities and genetic syndromes. It is estimated that 0.5/1000 newborns are affected worldwide, with a male to female ratio of 2:1 and greater distribution in developing countries (80%). The "European Surveillance of Congenital Anomalies (EUROCAT)" reported clubfoot prevalence in European newborns, but data regarding Italy are missing or poor. We aim to provide detailed data on clubfoot incidence according to the Apulian Regional Registry on Congenital Malformations and to report current knowledge on clubfoot genetic factors.
METHODS
METHODS
We extrapolated data from the Regional Registry of Congenital Malformations to evaluate incidence and prevalence of congenital clubfoot in Apulia, Italy over a period of four years (2015-2018). We also performed a narrative review focusing on genetic mutations leading to congenital clubfoot.
RESULTS
RESULTS
Over the period from 2015 to 2018 in Apulia, Italy, 124,017 births were recorded and 209 cases of clubfoot were found, accounting for an incidence rate of 1.7/1,000 and a prevalence rate of 1.6/1,000. Six families of genes have been reported to have an etiopathogenetic role on congenital clubfoot.
CONCLUSIONS
CONCLUSIONS
Incidence and prevalence of congenital clubfoot in Apulia, Italy, are comparable with those reported in the other Italian regions but higher than those reported in previous studies from Europe. Genetic studies to better classify congenital clubfoot in either syndromic or isolated forms are desirable.
Identifiants
pubmed: 37964341
doi: 10.1186/s13052-023-01559-9
pii: 10.1186/s13052-023-01559-9
pmc: PMC10648723
doi:
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
151Informations de copyright
© 2023. The Author(s).
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