A novel ZC4H2 variant in a female with severe respiratory complications

An X-linked ZC4H2 variant is associated with a variety of phenotypes that have abnormalities related to external malformation and neurodevelopment. There have been no reports on severe respiratory dysfunction resulting in surgical treatments not being possible due to the deformity resulting from in this disease. Here we report a female with arthrogryposis multiplex congenita with a severe respiratory complication.

Source: Brain and Development - April 30, 2022 Category: Neurology Authors: Tomohiro Wakabayashi, Miyako Mizukami, Kojiro Terada, Aki Ishikawa, Shiro Hinotsu, Masaki Kobayashi, Koji Kato, Tomoo Ogi, Takeshi Tsugawa, Akihiro Sakurai Tags: Case Report Source Type: research