Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation

• Main Authors: Ha Na Lee (Author), Chae Young Kim (Author), Euiseok Jung (Author), Beom Hee Lee (Author), Byong Sop Lee (Author), Ellen Ai Rhan Kim (Author), Ki-Soo Kim (Author)
• Format: Book
• Published: Korean Society of Neonatology, 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a case of CD with a 46, XY karyotype and female external genitalia. This child was born with a weight of 3.12 kg afte...