Original Research Articles
Lesch-Nyhan Disease a Treatable Mimicker of Dyskinetic Cerebral Palsy in Boys: Insights from an Indian Series of Six Cases with Report of Four Novel Variants
Vykuntaraju K. Gowda, Spoorthy Nelaji Karunakar, Varunvenkat M. Srinivasan, and Viveka-Santhosh Reddy
Tethered Spinal Cord and Urinary Tract Complications in Trisomy 18
Michael A. Phillipi, Ladawna Gievers, Jesse L. Winer, Casey Seideman, and Amanda J.H. Kim
Fanconi-Bickel Syndrome with Variable Phenotypes: A Case Series Highlighting a Successful Pregnancy Outcome from a Tertiary Care Center in North India
Pragya Kafley, Varunvenkat M. Srinivasan, Chaitra Ravi, Sangeeta Das, Pooja Motwani, and Kausik Mandal
A Study of Diagnostic Experience and Impacts of Rare Disease Diagnosis In Children and Their Families: Insights from India
Nidhi Vijay, Ashok Gupta, Priyanshu Mathur, and Megha Sharma
Case Studies
A Case Report of Shwachman-Diamond Syndrome and Literature Review
Xinfeng Gao and Jizhong Wang