en علوم آزمایشگاهی Laboratory Sciences گزارش مورد Case Report <div style="text-align: justify;"><span style="font-size:12px;"><span style="font-family:Times New Roman;">Osteoporosis-pseudoglioma syndrome (OPPG) is a rare disorder characterized by severe osteoporosis and vision impairment, due to mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. This autosomal recessive disorder is characterized by fractures, bone fragility, and pseudoglioma with blindness in infancy. Herein, we present a rare case of OPPG syndrome in an infant who, at 80 days of life (DOL), exhibited multiple fractures without any ophthalmic findings at the time of presentation. This is relatively earlier presentation of the symptoms as fractures are more commonly seen after two years of life.</span></span></div> Fractures, Multiple, Osteoporosis, Bone diseases, Metabolic, Norrie disease 12 13 http://mlj.goums.ac.ir/browse.php?a_code=A-10-1579-1&slc_lang=en&sid=1 Qudsiya Ansari ansari.qudsiya31@gmail.com 100319475328460029212 100319475328460029212 Yes Department of Pediatrics, TNMC and BYL Nair Hospital, Mumbai, India Anisha Jain anishajain1610@gmail.com 100319475328460029213 0009-0003-5104-5604 No Department of Pediatrics, TNMC and BYL Nair Hospital, Mumbai, India Kailas Randad krandad@rediffmail.com 100319475328460029214 100319475328460029214 No Department of Pediatrics, TNMC and BYL Nair Hospital, Mumbai, India Vinaya Singh lvinaya36@gmail.com 100319475328460029215 100319475328460029215 No Department of Pediatrics, TNMC and BYL Nair Hospital, Mumbai, India Akash Sarkate akash.srk175@gmail.com 100319475328460029216 100319475328460029216 No Department of Pediatrics, TNMC and BYL Nair Hospital, Mumbai, India