ArticleBirth defects research2022
Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.
Article in Birth defects research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Phocomelia: Bilateral limb deficiency in a neonate: A case report.World journal of clinical pediatrics · 2025Article
- Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.Annals of medicine and surgery (2012) · 2025Article
- Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.Birth defects research · 2022Article
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAmelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. We conducted a descriptive analysis of prevalence data in Finland during 1993-2008 to clarify the epidemiology nationwide in a population-based register study. We hypothesized that increasing maternal age would affect the total prevalence of each disorder. MATERIALS AND
methodsWe collected information on all fetuses and infants affected by amelia and phocomelia during 1993-2008 from the National Register of Congenital Malformations in Finland. The clinical, laboratory, autopsy, and imaging data were re-evaluated where available for all cases found.
resultsA total of 23 amelia and 7 phocomelia patients were identified. Thalidomide was not an etiological factor in any of the cases. The total prevalence of amelia was 2.43 per 100,000 births. The live birth prevalence was 0.63 per 100,000 live births. The total prevalence of phocomelia was 0.74 per 100,000 births, and the live birth prevalence was 0.53 per 100,000 live births. Infant mortality in amelia and phocomelia was 67% and 60%, respectively.
conclusionsInfant mortality is high among amelia and phocomelia. Most cases had other major associated anomalies, but syndromic amelia cases were rare. Total prevalences were higher than previously reported and showed an increase in prevalence toward the end of the study period. The percentage of elective terminations of pregnancy for these disorders is high. While isolated cases are rare, they most likely present a better prognosis. Thus, correct diagnosis is essential in counseling for possible elective termination.
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