Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d’un cas de diagnostic tardif
| Autor: | R. Bocciardi, S. Echaubard, J. Paysal, Etienne Merlin, J.-M. Garcier, F. Laffargue, S. Monnot, G. Baujat, Catherine Sarret, R. Ravazzolo |
|---|---|
| Přispěvatelé: | Image Guided Clinical Neurosciences and Connectomics (IGCNC), Université d'Auvergne - Clermont-Ferrand I (UdA), Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), INAF - Osservatorio Astronomico di Roma (OAR), Istituto Nazionale di Astrofisica (INAF), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), SIGMA Clermont (SIGMA Clermont)-Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Université d'Auvergne (Clermont Ferrand 1) (UdA), Institut Pascal - Clermont Auvergne (IP), Sigma CLERMONT (Sigma CLERMONT)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM) |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty business.industry Ossification Perinatology and Child Health Delayed diagnosis medicine.disease Pediatrics 3. Good health 03 medical and health sciences 030104 developmental biology Extraskeletal ossification Fibrodysplasia ossificans progressiva Pediatrics Perinatology and Child Health medicine [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] Radiology Medical diagnosis Presentation (obstetrics) medicine.symptom business ComputingMilieux_MISCELLANEOUS Rare disease |
| Zdroj: | Archives de Pédiatrie Archives de Pédiatrie, 2017, 24 (6), pp.547-551. ⟨10.1016/j.arcped.2017.03.007⟩ Archives de Pédiatrie, Elsevier, 2017, 24 (6), pp.547-551. ⟨10.1016/j.arcped.2017.03.007⟩ |
| ISSN: | 0929-693X 1769-664X |
| DOI: | 10.1016/j.arcped.2017.03.007⟩ |
| Popis: | Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by the association of congenital bone abnormalities and extraskeletal ossification flare-ups occurring in muscles and fasciae. Early diagnosis is important to prevent ossification flare-ups, but some atypical presentations can lead to errors in diagnosis and therefore delay. Here, we report on a case of an atypical presentation of FOP in a girl, in whom prominent transverse reductional abnormalities delayed diagnosis. The patient developed extraskeletal ossifications and progressive fibrosis that led to motor restrictions. Since early diagnosis is important, we discuss the clinical presentations of FOP and the differential diagnoses. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect