The syndrome was originally described in 1989 by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012.
Gus was diagnosed with Wiedemann-Steiner syndrome in July 2017, just shy of his 3rd birthday. Here is our story...
"Please don't shoot the messenger, but...can we talk?" I will never forget this day. Gus was 8 months old, and I had just arrived...
Our daughter was diagnosed (I think 2014) aged 8. We knew Evie had some sort of syndrome when she was born in 2006. Initially the geneticists thought it was Cornelia de lange syndrome then she got the diagnosis a few years ago.
Emma was a scheduled cesarean section on 7/9/12 at Women & Infants in Providence at 39 weeks and 3 days following an uneventful pregnancy. She immediately showed difficulty breathing and was brought to the NICU where she was diagnosed with PPHN. Over...