Noor Azka, Kunwar Digbijay, Tasneem Zahra, Ishaq Saad Ameer
Nishtar Medical University Hospital Multan Pakistan.
Bagahi Primary Healthcare Centre Birgunj Nepal.
Clin Case Rep. 2024 Dec 26;13(1):e70023. doi: 10.1002/ccr3.70023. eCollection 2025 Jan.
This case report highlights the clinical complexity of Bardet-Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. It underscores the importance of thorough assessment and advocates for genetic testing to optimize care, despite current financial, and laboratory constraints.
本病例报告突出了巴德-比德尔综合征(一种罕见的常染色体隐性疾病)的临床复杂性,强调生殖系统异常在诊断和管理中的作用。它强调了全面评估的重要性,并提倡进行基因检测以优化治疗,尽管目前存在经济和实验室方面的限制。