A Case of Campomelic Dysplasia without Sex Reversal

  title={A Case of Campomelic Dysplasia without Sex Reversal},
  author={Hyoung-Young Kim and Chong Hyun Yoon and Gu Hwan Kim and Han Wook Yoo and Byong Sop Lee and Ki Soo Kim and Ellen Ai-Rhan Kim},
  booktitle={Journal of Korean medical science},
Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs… CONTINUE READING