Publications by authors named "Jane E Corteville"
Article Synopsis
- Osteogenesis imperfecta (OI) is a bone disorder primarily caused by genetic mutations in type I collagen genes, with most cases being autosomal dominant.
- Recent findings have established a connection between the Mesoderm Development LRP Chaperone (MESD) and autosomal recessive OI, highlighting various biallelic pathogenic variants linked to severe deformities and recurrent fractures.
- This study expands the understanding of MESD’s role in WNT signaling, emphasizing its critical function in bone formation and pointing out the novel pathogenic variants that can lead to severe neonatal outcomes.
Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects, and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected parents. Presently, the recurrence risk for CdLS has been estimated to be as high as 1.
View Article and Find Full Text PDFPlacenta accreta (PA) encompasses various types of abnormal placentation in which chorionic villi attach directly to or invade the myometrium. PA is a significant cause of maternal morbidity and mortality and is now the most common reason for emergent postpartum hysterectomy. Its prevalence has risen tenfold in the United States over the past 50 years, primarily due to the increasing percentage of pregnant patients undergoing primary and repeat cesarean sections.
View Article and Find Full Text PDFObjectives: To report and discuss prenatal diagnosis of nemaline myopathy (NM) using fetal muscle biopsy.
Methods: A consanguineous couple, with a history of a child with a clinical diagnosis of NM but no molecular genetic confirmation, was referred for prenatal diagnosis in two subsequent pregnancies. Fetal muscle biopsy with ultrasound guidance was undertaken at 22 and 21 weeks, respectively.