A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification
SUMMARY: Background/Purpose: Congenital upper limb anomalies (CULAs) exhibit a wide range of manifestations. For this reason, the Oberg-Manske-Tonkin (OMT) classification was introduced to achieve etiologically correct and universal classification. Combined use of codes has been advocated to preven...
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Elsevier
2025-06-01
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352587825000683 |
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| author | Feikje Julia ten Cate Margriet Harmke Maria van Doesburg |
| author_facet | Feikje Julia ten Cate Margriet Harmke Maria van Doesburg |
| author_sort | Feikje Julia ten Cate |
| collection | DOAJ |
| description | SUMMARY: Background/Purpose: Congenital upper limb anomalies (CULAs) exhibit a wide range of manifestations. For this reason, the Oberg-Manske-Tonkin (OMT) classification was introduced to achieve etiologically correct and universal classification. Combined use of codes has been advocated to prevent the loss of important phenotypic information in compound phenotypes. Therefore, the aim of our study was to present a description of our population over the last 10 years, using the most recent (2020) version of the OMT and combined documentation when necessary. Methods: All patients who visited our tertiary referral hospital between 2010 and 2020 were analyzed retrospectively and classified using the OMT. Combined registration was allowed in compound phenotypes and combinations were analyzed. Results: Overall, 797 patients were included in our registry. Most anomalies were classified in the malformations group and 9.5% required combined documentation; 13.5% of the possible combinations were observed in opposite extremities. Syndactyly, polydactyly (radial and ulnar), and camptodactyly were the most common diagnoses. The most frequently observed recurring combinations were brachydactyly and clinodactyly, ulnar longitudinal deficiency and simple syndactyly, and simple syndactyly and clinodactyly. Conclusions: Approximately one-tenth of our population required combined documentation. When using compound documentation, we recommend providing information regarding the presence or absence of a combination in the same extremity. Failing to do so could lead to loss of equally important phenotypic information as disregarding combinations would. Epidemiologic registries such as ours, allow outcome comparison and provide information for research on underlying etiologies. Additionally, our research focused on the analysis of combinations of codes.Level of evidence: 3 |
| format | Article |
| id | doaj-art-5fa9e924c6374c4fbe71efdffc7a9097 |
| institution | OA Journals |
| issn | 2352-5878 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
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| series | JPRAS Open |
| spelling | doaj-art-5fa9e924c6374c4fbe71efdffc7a90972025-08-20T01:53:30ZengElsevierJPRAS Open2352-58782025-06-014447948610.1016/j.jpra.2025.03.023A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classificationFeikje Julia ten Cate0Margriet Harmke Maria van Doesburg1Corresponding author: Phone: +3120 566 9111; Amsterdam University Medical Center (AUMC), Department of Plastic, Reconstructive and Hand surgery, Meibergdreef 9, 1105 AZ, Amsterdam, The NetherlandsAmsterdam University Medical Center (AUMC), Department of Plastic, Reconstructive and Hand surgery, Meibergdreef 9, 1105 AZ, Amsterdam, The NetherlandsSUMMARY: Background/Purpose: Congenital upper limb anomalies (CULAs) exhibit a wide range of manifestations. For this reason, the Oberg-Manske-Tonkin (OMT) classification was introduced to achieve etiologically correct and universal classification. Combined use of codes has been advocated to prevent the loss of important phenotypic information in compound phenotypes. Therefore, the aim of our study was to present a description of our population over the last 10 years, using the most recent (2020) version of the OMT and combined documentation when necessary. Methods: All patients who visited our tertiary referral hospital between 2010 and 2020 were analyzed retrospectively and classified using the OMT. Combined registration was allowed in compound phenotypes and combinations were analyzed. Results: Overall, 797 patients were included in our registry. Most anomalies were classified in the malformations group and 9.5% required combined documentation; 13.5% of the possible combinations were observed in opposite extremities. Syndactyly, polydactyly (radial and ulnar), and camptodactyly were the most common diagnoses. The most frequently observed recurring combinations were brachydactyly and clinodactyly, ulnar longitudinal deficiency and simple syndactyly, and simple syndactyly and clinodactyly. Conclusions: Approximately one-tenth of our population required combined documentation. When using compound documentation, we recommend providing information regarding the presence or absence of a combination in the same extremity. Failing to do so could lead to loss of equally important phenotypic information as disregarding combinations would. Epidemiologic registries such as ours, allow outcome comparison and provide information for research on underlying etiologies. Additionally, our research focused on the analysis of combinations of codes.Level of evidence: 3http://www.sciencedirect.com/science/article/pii/S2352587825000683Classification strategyCULAOMT classificationOberg-Manske-Tonkin |
| spellingShingle | Feikje Julia ten Cate Margriet Harmke Maria van Doesburg A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification JPRAS Open Classification strategy CULA OMT classification Oberg-Manske-Tonkin |
| title | A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification |
| title_full | A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification |
| title_fullStr | A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification |
| title_full_unstemmed | A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification |
| title_short | A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification |
| title_sort | population description of culas using combined documentation of compound phenotypes according to the oberg manske tonkin classification |
| topic | Classification strategy CULA OMT classification Oberg-Manske-Tonkin |
| url | http://www.sciencedirect.com/science/article/pii/S2352587825000683 |
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