Congenital upper limb deficiencies and associated malformations in Finland: a population-based study
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Published on: May 5, 2018
Eeva Koskimies1, Nina Lindfors, Mika Gissler
1Department of Orthopedic and Hand Surgery, Helsinki University Central Hospital, Children's Hospital, Helsinki, Finland. eeva.koskimies@tyks.fi
Insights
The national incidence of upper limb deficiencies in Finland is 5.25 per 10,000 live births. These congenital conditions are linked to other birth defects and significantly increase infant mortality rates.
Area of Science:
- Pediatric Orthopedics
- Clinical Genetics
- Public Health Surveillance
Background:
- Congenital upper limb deficiencies are a group of birth defects affecting limb development.
- Accurate incidence data and understanding associated mortality are crucial for public health planning.
Purpose of the Study:
- To determine the national incidence of upper limb deficiencies in Finland.
- To analyze associated infant mortality and co-occurring anomalies using the International Federation of Societies for Surgery of the Hand (IFSSH) classification.
Main Methods:
- A population-based study of 753,342 births in Finland from 1993-2005.
- Utilized data from the Finnish Register of Congenital Malformations.
- Classified deficiencies using a modified IFSSH system, calculating incidence, mortality, and associated defects.
Main Results:
- Identified 419 cases of upper limb deficiencies, with a national incidence of 5.25 per 10,000 live births.
- Radial ray deficiency was the most common type.
- Infant mortality was 137 per 1,000 live births, significantly higher than the national average, with 60% of affected children having additional birth defects.
Conclusions:
- Congenital upper limb deficiencies occur in 5.25 per 10,000 live births in Finland.
- These conditions are frequently associated with other birth defects and carry a high mortality risk, particularly radial ray deficiency.
- The IFSSH classification aids in differentiating associated anomalies and mortality rates across subtypes.
Purpose:
To calculate the national incidence of upper limb deficiencies and associated infant mortality in children in Finland using the International Federation of Societies for Surgery of the Hand (IFSSH) classification. Radial ray deficiency, ulnar ray deficiency, central ray deficiency, transverse arrest, phocomelia, undergrowth, and constriction band syndrome with skeletal defects were evaluated.
Methods:
We reviewed upper limb deficiencies among all 753,342 births in Finland during 1993 to 2005 reported to the Finnish Register of Congenital Malformations. Classification of these upper limb deficiencies was done according to a modified IFSSH system. We calculated incidence, gender and side distributions, frequency of associated anomalies, and infant mortality rates in different subtypes of the deficiencies. Familial occurrence of congenital upper limb defects was recorded.
Results:
A total of 419 cases (234 male, 185 female) of upper limb deficiencies were identified. The national incidence of upper limb deficiencies was 5.56 per 10,000 births and 5.25 per 10,000 live births. The most common upper limb abnormality was radial ray deficiency (138), followed by subgroups of undergrowth (91), upper limb defects due to constriction band syndrome (51), central ray deficiency (41), and ulnar ray deficiency (33). Perinatal mortality was 14%. Infant mortality among children with upper limb deficiencies was 137 per 1,000 live births, compared with an overall infant mortality of 3.7 per 1,000 live births in Finland. Additional birth defects were found in 60% of these children. Prevalence of upper limb defects in relatives of the census population was 2% (11 of 419).
Conclusions:
The national incidence of upper limb deficiencies is 5.25 per 10,000 live births. Congenital upper limb deficiencies are associated with additional birth defects in two thirds of cases. These children, especially children with radial ray deficiency, have a high perinatal mortality rate. When divided into subgroups using IFSSH classification, differences emerge in both associated anomalies and mortality.
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