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Hand and Upper Limb Malformations in Italy: A Multicentric Study
Filippo M Senes1, Maria Grazia Calevo2, Roberto Adani3
1Reconstructive Surgery and Hand Surgery Unit, IRCCS Istituto Giannina Gaslini Genova, Genova, Italy.
Insights
Congenital hand and upper limb malformations occurred in 2.5/10,000 Italian births between 2010-2015. Radial polydactyly was most common, with incidence lower than other countries, showing a stable trend.
Area of Science:
- Pediatric Surgery
- Epidemiology
- Congenital Malformations
Background:
- Epidemiological data on hand and upper limb malformations are scarce.
- Congenital hand anomalies are relatively frequent but underreported.
- Previous studies lack comprehensive epidemiological analysis.
Purpose of the Study:
- To determine the incidence of congenital hand and upper limb malformations in Italy.
- To analyze demographic and etiological factors associated with these malformations.
- To establish a baseline for future epidemiological research in pediatric hand surgery.
Main Methods:
- Retrospective analysis of pediatric cases from eight Italian centers (2010-2015).
- Inclusion criteria: infants with hand and upper extremity malformations.
- Data collected: gender, birth region, family history, associated syndromes, and specific malformation types.
Main Results:
- An incidence of 2.5 per 10,000 live births was recorded (765 cases out of 3,100,421).
- Males and right-sided anomalies predominated. Radial polydactyly, simple syndactyly, symbrachydactyly, and complex syndactyly were most frequent.
- Familial predisposition was noted in 25 cases; 84 children had associated syndromes.
Conclusions:
- The incidence of congenital hand and upper limb malformations in Italy is lower than reported internationally.
- Study limitations include retrospective design and potential underdiagnosis of milder defects.
- Despite declining birth rates, congenital hand disorder trends remain stable in Italy.
Abstract:
Background: Although hand and upper limb malformations are quite frequent, up to now very few reports have been published on epidemiology. The aim of this study is to evaluate the number of infants who presented with hand and upper limb malformations from 2010 to 2015 in Italy. Methods: A retrospective analysis of a pediatric population presenting with hand and upper extremity malformations was carried out, gathering reports achieved from eight Italian Centers of pediatric hand surgery. Other factors such as gender, date and region of birth, family distribution of malformations and associated syndromes, were analysed. Results: Out of 3,100,421 live births, 765 children presented with hand and upper limb malformations. The incidence was 2,5/10,000 live births with a predominance of males and the right side. Radial polydactyly was the anomaly with the highest percentage, closely followed by simple syndactyly, simbrachidactyly and complex syndactyly. Less common conditions were the triphalangic thumb, thumb in palm, proximal radioulnar synostosis and Sprengel deformity. Inheritance of and familial predisposition to those malformations was recorded in 25 cases, while 84 children presented with syndromes related to hand anomalies. Conclusions: In conclusion the incidence of hand and upper extremity malformations in Italy is lower than that registered in other countries. The retrospective nature of the study combined with the fact that some defects frequently evade pediatric hand surgeon consultations are some possible limitations of the study. However, our data confirmed that, in spite of the decrease in the birth rate in Italy, the trend of congenital hand disorders maintained a stable trend. We aim to integrate this study with a prospective analysis and to involve the institutional health authorities in other countries so as to register the correct incidence of hand and upper extremity defects.
