Browsing by Author "Neerja Rani"

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An Overview of Clinical Manifestations in Chondrodysplasia Punctata
(Brazilian Society of Anatomy, 2023) J.P. Jessy; Rajesh Kumar; Neerja Rani; Kanchan Kapoor; Mahesh Sharma; Anupriya Kaur; Chetan Sahni
Introduction: chondrodysplasia punctata (CDP) is a rare, autosomal recessive disorder characterized by the punctuate calcifications of long bones epiphyses, cataract, and developmental delay. CDP is associated with inborn errors of metabolism, chromosomal abnormalities, and teratogens. The routine fetal autopsy was performed in 23+1 weeks abortus fetus showed dysmorphic facies, bilateral brachydactyly, and overriding of the toes, and X-ray examination suggested stippling of the epiphysis of long bones. Coronal clefts were seen in the region of the lumbar vertebrae. In this case, genetic counseling was offered to the couple. The diagnosis of CDP on autopsy was made after the radiological examination; hence this case also illustrates the importance of radiology in fetal autopsies. Molecular analysis is required for final diagnosis in such cases. © 2023 Brazilian Society of Anatomy. All rights reserved.
Ossification of calcaneal tendon: Plausible role of hypoxia-induced factor 1 alpha
(Wolters Kluwer Medknow Publications, 2022) Parul Kaushal; Tara Roy; Tony Jacob; Deep Srivastava; Chetan Sahni; Neerja Rani
Introduction: Tendons may rarely be ossified. The calcaneal tendon (CT) is the largest in the body. The incidence and mechanism of ossification of CT is not known. Material and Methods: We carried out a morphological, radiological, histological, and immunohistochemical study on the CT of 50 (30 - male and 20 - female) human cadavers. Results: The mean length (cm) of the CT was 27.60 ± 2.30 (right) and 27.51 ± 2.60 (left) in males and 25.43 ± 0.77 on both sides in females. The contribution to the formation of the CT from the two heads of gastrocnemius muscle was greater from medial head in 84%, lateral head in 12%, and equal in 4%. On screening the CT by C-arm radiography, slight opacification at the site of insertion of CT (bilaterally) was noted in an elderly male. Large, bilateral opacification was seen in another elderly male cadaver. Well-defined lamellar bone with osteocytes lying in lacunae and bone marrow amid the tendon collagenous tissue was noted in hematoxylin- and eosin-stained sections. The osteocytes expressed hypoxia-induced factor 1 alpha. Discussion and Conclusion: In this study, we confirmed that the radiological opacification in the CT was ossification that may have been triggered by hypoxia. © 2022 Journal of the Anatomical Society of India | Published by Wolters Kluwer - Medknow.