Young girl with rare disorder has had over 20 procedures at Montreal Children’s

Rita-Elinor Katz was born with a rare genetic disorder called Pfieffer Syndrome, which causes the bones of the skull and face and some limbs to fuse prematurely.

That means her face and skull did not grow as quickly as it should have and it impeded the growth of her brain, an issue for her development.

“I’ve been here 35 years. I have two Pfeiffer patients; it’s not a very common disease,” said pediatric neurosurgeon Dr. Jean-Pierre Farmer.

Farmer and Dr. Mirko Gilardino worked with other specialists and have performed 23 surgeries that expanded Katz’s skull to keep up with her brain growth.

“The biggest emergency came at 17 months of life when Rita’s face was so small that her eyes were continuously popping out of their sockets to the point where she was going to lose vision, and we were stuck to perform a fairly risky procedure at a fairly young age,” said Gilardino.

Christine Long  CTV News Montreal Videojournalist

Published Aug. 23, 2023 11:19 a.m. EDT

Updated Aug. 24, 2023 2:50 p.m. EDT