ArticleAmerican journal of medical genetics. Part A2020
Etiological diagnosis in limb reduction defects and the number of affected limbs: A population-based study in the Northern Netherlands.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 27 citations in OpenAlex.
- The Influence of the Introduction of Fetal Anomaly Scans on Pregnancy Terminations in Cases of Upper Limb Anomalies: A Retrospective Cohort Study From 2000 to 2023.Prenatal diagnosis · 2025Article
- Hirschprung's Disease and Thoracic Limb Amputation by Amniotic Bands in a Patient With Down Syndrome: A Case Report.Clinical case reports · 2025Article
- Prevalence, infant outcomes and gestational risk factors for transverse reduction deficiencies at or above the wrist: a population-based study.The Journal of hand surgery, European volume · 2025Article
- Phenotype-to-Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study.Prenatal diagnosis · 2025Article
- A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.European journal of epidemiology · 2024Article
- Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.Orphanet journal of rare diseases · 2024Article
- Maternal Cigarette Smoking and Congenital Upper and Lower Limb Differences: A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2023Review
- Prenatal radiographic evaluation of congenital transverse limb deficiencies: A scoping review.World journal of orthopedics · 2023Article
- The Alberta Congenital Anomalies Surveillance System: a 40-year review with prevalence and trends for selected congenital anomalies, 1997-2019.Health promotion and chronic disease prevention in Canada : research, policy and practice · 2023Article
- Prenatal diagnosis and pregnancy outcome of major structural anomalies detectable in the first trimester: A population-based cohort study in the Netherlands.Paediatric and perinatal epidemiology · 2022Article
- Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM).Children (Basel, Switzerland) · 2021Article
- Etiological diagnosis in limb reduction defects and the number of affected limbs: A population-based study in the Northern Netherlands.American journal of medical genetics. Part A · 2020Article
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5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Limb reduction defects (LRDs) that affect multiple limbs are considered to be more often heritable, but only few studies have substantiated this. We aimed to investigate if an etiological diagnosis (genetic disorder or clinically recognizable disorder) is more likely to be made when multiple limbs are affected compared to when only one limb is affected. We used data from EUROCAT Northern Netherlands and included 391 fetuses and children with LRDs born in 1981-2017. Cases were classified as having a transverse, longitudinal (preaxial/postaxial/central/mixed), intercalary, or complex LRD of one or more limbs and as having an isolated LRD or multiple congenital anomalies (MCA). We calculated the probability of obtaining an etiological diagnosis in cases with multiple affected limbs versus one affected limb using relative risk (RR) scores and Fisher's exact test. We showed that an etiological diagnosis was made three times more often when an LRD occurred in multiple limbs compared to when it occurred in one limb (RR 2.9, 95% CI 2.2-3.8, p < 0.001). No genetic disorders were found in isolated cases with only one affected limb, whereas a genetic disorder was identified in 16% of MCA cases with one affected limb. A clinically recognizable disorder was found in 47% of MCA cases with one affected limb. Genetic counseling rates were similar. We conclude that reduction defects of multiple limbs are indeed more often heritable. Genetic testing seems less useful in isolated cases with one affected limb, but is warranted in MCA cases with one affected limb.
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