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

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.

Keywords

isolated fetal femoral fracture - malignant infantile osteopetrosis - osteopetrosis - prenatal genetic testing - skeletal dysplasias

Ethical Approval

This case report adheres strictly to the principles outlined in the Declaration of Helsinki. All identifiable and confidential patient information has been anonymized and obscured to maintain privacy. The participant has been duly informed about the nature and purpose of this report, and informed consent has been obtained.

Authors' Contributions

B.S. conceived and developed the theory and supervised this work. B.S. and V.T.J. wrote the manuscript. Both authors discussed and contributed to the final manuscript.

Publication History

Article published online:
16 April 2024

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