Sonia Hills, Alisa Pugacheva, Patricia Weltin, Annette Maughan, Sarah U Morton, Henry A Feldman, Petra M Klinge, Pankaj B Agrawal
Tethered cord syndrome (TCS) is characterized by leg pain and weakness, bladder and bowel dysfunction, orthopedic malformations such as scoliosis, and motor deficits caused by the fixation of the spinal cord to surrounding tissues. TCS is surgically treatable and often found in conjunction with other syndromic conditions. KBG syndrome is caused by variants in the ANKRD11 gene and is characterized by short stature, developmental delay, macrodontia, and a triangular face. The current study explores the prevalence of TCS in pediatric KBG patients and their associated signs and symptoms...
February 1, 2023: American Journal of Medical Genetics. Part A