A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.

@article{Bakker2015AGW,
  title={A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.},
  author={Boudewijn Bakker and Laura J H Sonneveld and M Claire Woltering and H. Bikker and Sarina G. Kant},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2015},
  volume={100 11},
  pages={3963-6}
}
CONTEXT Several patients with Beckwith-Wiedemann Syndrome (BWS) with multiple imprinting defects found by genetic analysis have been described. However, only two cases have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects. CASE DESCRIPTION The girl in this case presented at the age of 6 months with morbid obesity (body mass index, +7.5 SDS) and a large umbilical hernia. Genetic analysis showed BWS (hypomethylation of the… CONTINUE READING