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…
BACKGROUND: Our genomewide studies support targeted testing the most frequent genetic diseases by patient category: (1) pregnant patients, (2) at-risk conceptuses, (3) affected children, and (4) abnormal adults. This approach not only identifies most…