Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy
Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can have chest wall deformities including pectus e...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-08-01
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| Series: | Journal of Pediatric Surgery Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213576621001366 |
| _version_ | 1819260356206264320 |
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| author | Nelimar Cruz Centeno Victor N. Ortiz Justiniano |
| author_facet | Nelimar Cruz Centeno Victor N. Ortiz Justiniano |
| author_sort | Nelimar Cruz Centeno |
| collection | DOAJ |
| description | Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can have chest wall deformities including pectus excavatum and pectus carinatum. Cardiorespiratory problems caused by these deformities is the major cause of morbidity and mortality in these patients. Outcomes of surgical correction of pectus excavatum in patients with osteogenesis imperfecta have not been described in the literature. It is important to establish definitive treatment options for these patients to improve their respiratory capacity and reduce mortality. In this case series we present the case of two pre-pubertal pediatric patients with osteogenesis imperfecta type I who underwent surgical correction of pectus excavatum with the Nuss procedure after pamidronate therapy. Both patients had successful correction of the chest wall deformity with significant improvement in their quality of life. |
| first_indexed | 2024-12-23T19:24:36Z |
| format | Article |
| id | doaj.art-1fe3bcab059b4506ab13e737facaefd8 |
| institution | Directory Open Access Journal |
| issn | 2213-5766 |
| language | English |
| last_indexed | 2024-12-23T19:24:36Z |
| publishDate | 2021-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Pediatric Surgery Case Reports |
| spelling | doaj.art-1fe3bcab059b4506ab13e737facaefd82022-12-21T17:34:04ZengElsevierJournal of Pediatric Surgery Case Reports2213-57662021-08-0171101915Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapyNelimar Cruz Centeno0Victor N. Ortiz Justiniano1University of Puerto Rico, Medical Sciences Campus, Department of Surgery, San Juan, PR, 00936, Puerto Rico; Corresponding author.University of Puerto Rico, Medical Sciences Campus, Department of Surgery, Pediatric Surgery Division, San Juan, PR, 00936, Puerto RicoOsteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can have chest wall deformities including pectus excavatum and pectus carinatum. Cardiorespiratory problems caused by these deformities is the major cause of morbidity and mortality in these patients. Outcomes of surgical correction of pectus excavatum in patients with osteogenesis imperfecta have not been described in the literature. It is important to establish definitive treatment options for these patients to improve their respiratory capacity and reduce mortality. In this case series we present the case of two pre-pubertal pediatric patients with osteogenesis imperfecta type I who underwent surgical correction of pectus excavatum with the Nuss procedure after pamidronate therapy. Both patients had successful correction of the chest wall deformity with significant improvement in their quality of life.http://www.sciencedirect.com/science/article/pii/S2213576621001366Osteogenesis imperfectaPectus excavatumNuss procedureCase seriesCollagenPamidronate |
| spellingShingle | Nelimar Cruz Centeno Victor N. Ortiz Justiniano Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy Journal of Pediatric Surgery Case Reports Osteogenesis imperfecta Pectus excavatum Nuss procedure Case series Collagen Pamidronate |
| title | Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy |
| title_full | Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy |
| title_fullStr | Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy |
| title_full_unstemmed | Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy |
| title_short | Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy |
| title_sort | pectus excavatum in osteogenesis imperfecta type i treated with nuss procedure after pamidronate therapy |
| topic | Osteogenesis imperfecta Pectus excavatum Nuss procedure Case series Collagen Pamidronate |
| url | http://www.sciencedirect.com/science/article/pii/S2213576621001366 |
| work_keys_str_mv | AT nelimarcruzcenteno pectusexcavatuminosteogenesisimperfectatypeitreatedwithnussprocedureafterpamidronatetherapy AT victornortizjustiniano pectusexcavatuminosteogenesisimperfectatypeitreatedwithnussprocedureafterpamidronatetherapy |