Work

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

Year: 2025

Type: article

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.

Source: Journal of Education Health and Sport

DOI: 10.12775/jehs.2025.80.59957

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

Institutions: University of Silesia in Katowice, Akademia Śląska, Międzyleski Szpital Specjalistyczny w Warszawie, Medical University of Silesia

Language: English

Topic: Bone Tumor Diagnosis and Treatments

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4410264609

FWCI:

Cites: 8

Cited by:

Related to: 10