Preaxial polydactyly of the foot Clinical and genetic implications for the orthopedic practice based on a literature review and 76 patients
| Autor: | Christianne A. van Nieuwenhoven, Elise B. Burger, Steven E.R. Hovius, Martijn Baas, A. Jeannette M. Hoogeboom |
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| Přispěvatelé: | Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Disease 03 medical and health sciences Human Phenotype Ontology Medicine Orthopedics and Sports Medicine Craniofacial Orthopedic surgery Polydactyly business.industry Preaxial polydactyly General Medicine Geneticist medicine.disease Surgery Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10] body regions 030104 developmental biology medicine.anatomical_structure Upper limb Presentation (obstetrics) business RD701-811 |
| Zdroj: | Acta Orthopaedica, 89(1), 113-118. Informa Healthcare Acta Orthopaedica Scandinavica, 89, 113-118 Acta Orthopaedica Scandinavica, 89, 1, pp. 113-118 Acta Orthopaedica, Vol 89, Iss 1, Pp 113-118 (2018) |
| ISSN: | 1745-3674 |
| DOI: | 10.1080/17453674.2017.1383097 |
| Popis: | Contains fulltext : 191468.pdf (Publisher’s version ) (Open Access) Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review was based on the Human Phenotype Ontology (HPO) project. From the HPO dataset, all phenotypes describing preaxial polydactyly were obtained and related diseases were identified and selected. An overview was generated in a heatmap, in which the phenotypic contribution of 12 anatomical groups to each disease is displayed. Clinical cases were obtained from our hospital database and were reviewed in terms of phenotype, genotype, heredity, and diagnosed syndromes. Results - From the HPO dataset, 21 diseases were related to preaxial polydactyly of the foot. The anatomical groups with the highest phenotypic contribution were lower limb, upper limb, and craniofacial. From our clinical database, we included 76 patients with 9 different diseases, of which 27 had a GLI3 mutation. Lower limb malformations (n = 55), upper limb malformations (n = 59), and craniofacial malformations (n = 32) were most frequently observed. Malformations in other anatomical groups were observed in 27 patients. Interpretation - Preaxial polydactyly of the foot often presents with other upper and lower limb malformations. In patients with isolated preaxial polydactyly of the foot, referral to a clinical geneticist is not mandatory. In patients with additional malformations, consultation with a clinical geneticist is recommended. When additional limb malformations are present, analysis of GLI3 is most feasible. |
| Databáze: | OpenAIRE |
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