Abstract
This article presents a case study involving a 32-year woman bearing a fetus diagnosed with achondrogenesis type 2 which is a rare and life-threatening skeletal disorder. Despite the challenges posed by its rarity and various phenotypic manifestations a multidisciplinary approach was performed to establish the diagnosis. This approach involved assessments, ultrasound imaging, radiographic findings, and genetic testing. The significance of these tools in differentiating achondrogenesis type 2 from skeletal disorders with similar clinical and radiological features is highlighted in this report. Additionally, the article emphasizes the role of counseling in managing these conditions providing invaluable support, education, and guidance to parents. The findings underscore the importance of accurate diagnosis for pregnancy management and informed decision making by parents. Further research is warranted to enhance our understanding of these conditions and develop efficient strategies for the early detection, diagnosis, and management.
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Copyright (c) 2024 Hiba M’Kadmi, Karoui Abir, Chanoufi Mohamed Bedis, Sahraoui Mariem (MSc), Masmoudi Aida, Achour Radhouane