Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 51 12 2022 12 17 2826 2830 Ali Akbar Zeinaloo Department of Pediatric Cardiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran Hamidreza Mirzaei Ilali Department of Pediatric Cardiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran Ehsan Aghaei Moghadam Department of Pediatric Cardiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran Hamid Reza Khorram Khorshid Personalized Medicine and Genometabolomics Research Center, Hope Generation Foundation, Tehran, Iran Emran Esmaeilzadeh Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran 2021 09 09 2022 01 11 Mulibrey Nanism is a rare multisystem disorder inherited in an autosomal recessive manner caused by mutations in the TRIM37 gene. Most of the reported cases are from Finland, but this condition has rarely occurred in other countries. Although the clinical diagnosis of Mulibrey nanism is a challenge during the first months of life, the disease can be suspected clinically due to the distinctive features of the patients.  A 4-year-old female with pneumonia, cardiomyopathy, growth retardation, peripheral edema, and characteristic craniofacial features was referred to Tehran Hope Generation Foundation Genetic diagnosis Center, in October 2021. Genomic DNA was isolated from peripheral blood samples of the patient and her parents and Whole exome sequencing was performed for the patient. Whole exome sequencing revealed a homozygous G>A splice site variant (TRIM37; c.370-1G>A). Sanger sequencing confirmed the segregation of the variant with phenotype in this family. Whole exome sequencing can be helpful in the diagnosis of the patients suspecting to Mulibrey nanism and lacking sufficient clinical presentation according to the diagnostic algorithm.   https://ijph.tums.ac.ir/index.php/ijph/article/view/26214 https://ijph.tums.ac.ir/index.php/ijph/article/download/26214/7814