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- Title
Fibrodysplasia ossificans progressiva: when a double skeleton is present.
- Authors
Maduro, Ana Isabel; Mendes, Beatriz; Saraiva, André Pinto; Sousa, Marlene; Marques, Marta; B. Sousa, Sérgio; Salvador, Maria João; Malcata, Armando; Serra, Sara
- Abstract
The foot radiographs showed bilateral hypoplastic hallux (K) Discussion FOP is a rare (1:2,000,000) and disabling genetic disease characterized by progressive HO of soft connective tissues and congenital hallux malformations, caused by gain-of-function mutations in the I ACVR1 i gene [[1]]. The radiographs revealed generalized heterotopic ossification (full arrows), which involves the soft tissues of the spine (C, D), left arm (E), elbows (F, G), hip (I), thoracic region (J), and feet (K). A 57-year-old female patient was referred to the Rheumatology Department due to progressive stiffness and limited mobility of the cervical and lumbar spine, followed by the shoulder, elbow, and hip joints.
- Subjects
FIBRODYSPLASIA ossificans progressiva; SKELETON; INFORMED consent (Medical law); SPINE abnormalities; CERVICAL vertebrae; HALLUX valgus
- Publication
Clinical Rheumatology, 2023, Vol 42, Issue 11, p3173
- ISSN
0770-3198
- Publication type
Case Study
- DOI
10.1007/s10067-023-06712-7