Malignant Infantile Osteopetrosis Masquerading as Isolated Fetal Femoral Fracture: First Indian Case Report and Review of Literature

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY Journal of Fetal Medicine Pub Date : 2024-04-16 DOI:10.1055/s-0044-1780491
Balusamy Sathyalakshmi, Vanathi Thangavelu Jothi
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Abstract

Malignant infantile osteopetrosis is a rare case of isolated fetal femoral fracture, a scarcely documented phenomenon in medical literature. Through detailed examination and genetic testing, it unveils malignant infantile osteopetrosis as an unexpected etiology, challenging existing diagnostic paradigms. This groundbreaking case emphasizes the critical role of genetic testing in unraveling complex fetal anomalies and underscores the necessity for comprehensive approaches in prenatal diagnostics, offering new insights into prenatal manifestations of skeletal dysplasias.
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伪装成孤立性胎儿股骨骨折的恶性婴幼儿骨软化症:印度首例病例报告和文献综述
恶性婴幼儿骨质增生症是一例罕见的胎儿孤立性股骨骨折病例,在医学文献中鲜有记载。通过详细检查和基因检测,该病例揭示了恶性婴幼儿骨质变性这一意想不到的病因,对现有的诊断范式提出了挑战。这一突破性病例强调了基因检测在揭示复杂的胎儿畸形中的关键作用,并强调了产前诊断中采用综合方法的必要性,为骨骼发育不良的产前表现提供了新的见解。
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来源期刊
Journal of Fetal Medicine
Journal of Fetal Medicine OBSTETRICS & GYNECOLOGY-
自引率
50.00%
发文量
26
期刊介绍: Journal of Fetal Medicine is the official journal of the Society of Fetal Medicine affiliated with International Society of Ultrasound in Obstetrics & Gynecology. This is a peer-reviewed international journal featuring articles with special interest to fetal medicine specialists, geneticists and ulstrasonologists. The aim of the journal is to communicate the results of original research in the field of fetal medicine. It includes a variety of articles suitable for clinicians and scientific specialists concerned with diagnosis and therapy of fetal disorders. All articles on health promotion of the fetus are acceptable for publication. The major focus is on highlighting the work that has been carried out in India and other developing countries. It also includes articles written by experts from the West. Types of articles published: - Original research articles related to fetal care and basic research - Review articles - Consensus guidelines for diagnosis and treatment - Case reports - Images in Fetal Medicine - Brief communications
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