Progressive osseous heteroplasia in a 10-year-old male child
| العنوان: | Progressive osseous heteroplasia in a 10-year-old male child |
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| المؤلفون: | Vikas Verma, Girish Kumar Singh |
| المصدر: | Indian Journal of Orthopaedics, Vol 45, Iss 3, Pp 280-282 (2011) Indian Journal of Orthopaedics |
| بيانات النشر: | Springer Science and Business Media LLC, 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, biology, business.industry, Ossification, Case Report, medicine.disease, Progressive osseous heteroplasia, GNAS1 mutation, lcsh:RD701-811, subcutaneous ossification, heterotopic ossification, lcsh:Orthopedic surgery, Fibrodysplasia ossificans progressiva, GNAS complex locus, biology.protein, Medicine, Orthopedics and Sports Medicine, Pseudopseudohypoparathyroidism, Heterotopic ossification, medicine.symptom, business, Paternal Inheritance, Pseudohypoparathyroidism |
| الوصف: | We report a sporadic case of progressive osseous heteroplasia (POH) in a 10-year-old male child who developed progressive ossification of the skin and deep connective tissue. The condition needs to be distinguished from other causes of childhood heterotopic ossification, such as fibrodysplasia ossificans progressiva, pseudohypoparathyroidism, and pseudopseudohypoparathyroidism. The cause of POH is an inactivating GNAS1 (guanine nucleotide-binding protein alpha-stimulating activity polypeptide 1) mutation caused only by paternal inheritance of the mutant allele. Most cases are sporadic and only 2 instances of familial transmission have been documented, suggesting an autosomal dominant mode of inheritance with possible somatic mosaicism. The condition is associated with progressive superficial to deep ossification, progressive restriction of range of motion, bleak prognosis, and recurrence if excised. |
| تدمد: | 1998-3727 0019-5413 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b442e7aa5181246a72762626909f860Test https://doi.org/10.4103/0019-5413.80050Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9b442e7aa5181246a72762626909f860 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19983727 00195413 |
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