Pruthvi Patel
Papers
1
Total Citations
1
H-Index
1
About
Pruthvi Patel’s research centers on the clinical management of rare genetic disorders, with a particular focus on Patau syndrome (trisomy 13). In their most-cited work, a 2024 case report on a 29-year-old patient with Patau syndrome, Patel provides critical insights into the long-term medical management of a condition typically associated with early mortality. This contribution is notable for documenting survival into adulthood, highlighting the systemic challenges—such as microphthalmia, microcephaly, and low-set ears—that require multidisciplinary care. Although the paper has garnered 1 citation, its value lies in its rarity and the practical guidance it offers clinicians. Patel’s work underscores the importance of individualized treatment plans for patients with complex chromosomal abnormalities, bridging a gap in the literature on adult outcomes. By detailing a case that defies typical prognoses, Patel contributes to a deeper understanding of how to optimize quality of life for this population. This achievement marks Patel as a researcher dedicated to advancing care for underserved patient groups, with potential for future impact as awareness of long-term Patau syndrome management grows.
Research Focus
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Top Papers
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