Patients with anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID)) have mutations in the gene on the X chromosome encoding nuclear factor kappa B (NF-kappa B) essential modulator (NEMO), resulting in conical teeth, sparse hair, anhidrosis…
In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia, which is the most common form of skeletal dysplasia associated with dwarfism. Pseudoachondroplasia is the second-most common…
