Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome

• Principais autores: Lihong Jiang (Autor), Xin Chen (Autor), Jiaqi Zheng (Autor), Meilin Wang (Autor), Hui Bo (Autor), Geli Liu (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) syndrome is a rare autosomal recessive disease. In this study we reported the first Chinese patient with FILS syndrome. The patient had short stature and suffered from recurrent respiratory infections up to the age of 4 years. Ot...