| Autor: |
Yasser Ciro Sullcahuaman Allende, Julio Cesar Mendoza Fernández, Melissa Sindy Peláez Chomba, Guillermo Raúl Vásquez Gómez, Vicente Leandro Cruzate Cabrejos, Nelson David Purizaca Rosillo, Alejandra Zevallos |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
F1000Research, Vol 12 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2046-1402 |
| DOI: |
10.12688/f1000research.131094.2 |
| Popis: |
Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolomé Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was performed to the mother at 29 weeks. A fetus with altered morphology and multiple fractures was found. Therefore, a prenatal diagnosis of osteogenesis imperfecta was performed. The neonate was born with a respiratory distress syndrome and an acyanotic congenital heart disease. Therefore, she remained in NICU until her death. We highlight the importance of prenatal diagnosis, genetic counseling and a multidisciplinary evaluation in this type of pathologies and report a new probably pathogenic variant in the COL1A2 gene detected by exomic sequencing in amniotic fluid. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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