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INTERNATIONAL JOURNAL OF NOVEL RESEARCH AND DEVELOPMENT International Peer Reviewed & Refereed Journals, Open Access Journal ISSN Approved Journal No: 2456-4184 | Impact factor: 8.76 | ESTD Year: 2016 Scholarly open access journals, Peer-reviewed, and Refereed Journals, Impact factor 8.76 (Calculate by google scholar and Semantic Scholar | AI-Powered Research Tool) , Multidisciplinary, Monthly, Indexing in all major database & Metadata, Citation Generator, Digital Object Identifier(DOI) |
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| Paper Title: | A REVIEW ON STONEMAN SYNDROME |
| Authors Name: | Shraddha B. Bhor , Sonali B. Aher , Jitesh R. Batra |
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| Author Reg. ID: |
IJNRD_211273
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| Published Paper Id: | IJNRD2312304 |
| Published In: | Volume 8 Issue 12, December-2023 |
| DOI: | |
| Abstract: | Fibrodysplasia Ossificans Progressiva (FOP), better known as Stone Man Syndrome (SMS), is a rare genetic condition characterised by progressive heterotopic ossification that severely limits mobility. Misdiagnosis and mishandling of FOP are relatively common. Even harder to identify, atypical manifestations of FOP might result in iatrogenic harm that causes lasting disability. We describe the case of a 10-year-old girl who presented with complaints of a spine deformity and several back swellings that had been present for a year without any prior medical history. Upon examination, many hard bone swellings of varying sizes were observed on the back, along with a right sided mid-dorsal scoliosis that was accentuated when the patient bent forward. A skeletal survey identified the following abnormalities: bilateral short and broad femoral neck, pseudo-exostosis over the distal femur and proximal tibia, fusion of the lower cervical spinous process, and hallux valgus deformity in the left foot. The ACVR1 gene's p.R206H mutation was linked to FOP by sequencing. In this unusual presentation of SMS/FOP, the danger of misdiagnosis and mismanagement has been avoided thanks to the confirmation of the diagnosis through genetic investigation. Future therapeutic strategies for FOP may benefit from understanding the varying phenotypic expressivity of the condition. |
| Keywords: | Myositis ossificans progressiva, Fibrodysplasia ossificans progressiva, Heterotopic ossification, |
| Cite Article: | "A REVIEW ON STONEMAN SYNDROME", International Journal of Novel Research and Development (www.ijnrd.org), ISSN:2456-4184, Vol.8, Issue 12, page no.d36-d45, December-2023, Available :http://www.ijnrd.org/papers/IJNRD2312304.pdf |
| Downloads: | 000118754 |
| ISSN: |
2456-4184 | IMPACT FACTOR: 8.76 Calculated By Google Scholar| ESTD YEAR: 2016 An International Scholarly Open Access Journal, Peer-Reviewed, Refereed Journal Impact Factor 8.76 Calculate by Google Scholar and Semantic Scholar | AI-Powered Research Tool, Multidisciplinary, Monthly, Multilanguage Journal Indexing in All Major Database & Metadata, Citation Generator |
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Published Paper ID:IJNRD2312304 Registration ID: 211273 Published In: Volume 8 Issue 12, December-2023 DOI (Digital Object Identifier): Page No: d36-d45 Country: Ahmednagar, Maharashtra, India Research Area: Pharmacy Publisher : IJ Publication Published Paper URL : https://www.ijnrd.org/viewpaperforall?paper=IJNRD2312304 Published Paper PDF: https://www.ijnrd.org/papers/IJNRD2312304 |
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ISSN: 2456-4184
Impact Factor: 8.76 and ISSN APPROVED
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