Prenatal Ultrasonographic Features Associated With ARSL and X‐Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series

Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short fingers. CDPX1 has been associated with variants in the ARSL gene and is known to manifest prenatally, however, there has been no systematic literature review on this evidence.