Craniofacial fibrous dysplasia: case report of uncommon genetic defect in young adult

Fibrous dysplasia is uncommon genetic defect in which normal bone and marrow are replaced with fibro-osseous tissue, leading to bone deformities, pain fractures and functional impairments. The case presents 27 years old women that was diagnosed with sepsis in the course of catheter-related infection and treated at nephrology department. She was diagnosed with chronic kidney disease that started during pregnancy and originated due to steroid-resistant nephrotic syndrome. During the hospitalization, a CT scan of the head was performed because of facial deformation. Based on CT scans of head, craniofacial fibrous dysplasia was confirmed.

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Publication Details

Journal
Journal of Education Health and Sport
Published
2025-05-10
DOI
https://doi.org/10.12775/jehs.2025.80.59957
Primary Topic
Bone Tumor Diagnosis and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

Craniofacial fibrous dysplasia: case report of uncommon genetic defect in young adult

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Journal of Education Health and Sport
Bone Tumor Diagnosis and Treatments
article

Craniofacial fibrous dysplasia: case report of uncommon genetic defect in young adult

Barbara Sławińska, Oliwia Sysło, Zuzanna Błecha, Konrad Haraziński, Weronika Goliat, Izabela Jastrzębska, Nikola Rubik, Maksym Gmur, Michał Gajewski, Nicole Maryniak
article en

Abstract

Fibrous dysplasia is uncommon genetic defect in which normal bone and marrow are replaced with fibro-osseous tissue, leading to bone deformities, pain fractures and functional impairments. The case presents 27 years old women that was diagnosed with sepsis in the course of catheter-related infection and treated at nephrology department. She was diagnosed with chronic kidney disease that started during pregnancy and originated due to steroid-resistant nephrotic syndrome. During the hospitalization, a CT scan of the head was performed because of facial deformation. Based on CT scans of head, craniofacial fibrous dysplasia was confirmed.

Journal of Education Health and SportVol. 80
Twitter (United States) (US), Medical University of Silesia (PL), University of Economics in Katowice (PL), Z.V.M.Unani Medical College & Hospital (IN), Academy of Fine Arts in Katowice (PL), Antoni Jurasz University Hospital (PL), Międzyleski Szpital Specjalistyczny w Warszawie (PL), WSB University (PL), University of Silesia in Katowice (PL)
Openalex Percentile: Top 84%
Bone Tumor Diagnosis and Treatments
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