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AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
We have shown that the boy and his mother have a previouslyunknown pathogenic variant of the LEMD3 gene, supporting the diagnosis ofosteopoikilosis.
📌 3 Key Takeaways
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Objective & Hypothesis:Osteopoikilosis (OPK) is a rare, benign condition characterized byosteosclerotic foci that occur in the epiphyses and metaphyses of long bones,wrists, feet, ankles, pelvis, and scapulae.
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Key Findings & Data:We report a 16-year-old boy andhis mother incidentally found to have sclerotic lesions on X-ray.
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Conclusion & Impact:We have shown that the boy and his mother have a previouslyunknown pathogenic variant of the LEMD3 gene, supporting the diagnosis ofosteopoikilosis.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
Osteopoikilosis (OPK) is a rare, benign condition characterized byosteosclerotic foci that occur in the epiphyses and metaphyses of long bones,wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy andhis mother incidentally found to have sclerotic lesions on X-ray. Both ofthem were asymptomatic and the bone scan of the boy ruled out osteoblasticmetastases. We have shown that the boy and his mother have a previouslyunknown pathogenic variant of the LEMD3 gene, supporting the diagnosis ofosteopoikilosis.
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Cite This Article
ELMAOĞULLARI, S., YILDIZ, A. E., DEMİR, S., GÜRKAN, H., UÇAKTÜRK, S. A. (2019). A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 4, 594–598. https://ajindex.com/articles/412028