Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

• Main Authors: Lara Pemberton (Author), Robert Barker (Author), Anna Cockell (Author), Vijaya Ramachandran (Author), Andrea Haworth (Author), Tessa Homfray (Author)
• Format: Book
• Published: BMC, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenat...