Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta

• मुख्य लेखकों: Michael F. Holick (लेखक), Arash Shirvani (लेखक), Nipith Charoenngam (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2021-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis. In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures resembling osteogenesis imperfecta and tested negative for <i>COL1A1</i> and <i>COL1A2</i&...