Ming-Ran Luo, Si-Ming Dai, Yin Li, Qian Wang, Hao Liu, Peng Gao, Jia-Yun Liu, Jian Chen, Shu-Jie Zhao, Guo-Yong Yin
BACKGROUND: A rare autosomal recessive genetic disorder, 3M syndrome, is characterized by severe intrauterine and postnatal growth retardation. Children with 3M syndrome typically exhibit short stature, facial deformities, long tubular bones, and high vertebral bodies but generally lack mental abnormalities or other organ damage. Pathogenic genes associated with 3M syndrome include CUL7 , OBSL1 and CCDC8 . The clinical and molecular characteristics of patient with 3M syndrome are unique and serve as important diagnostic indicators...
March 16, 2024: World Journal of Clinical Cases