Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Objectives: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities.

Methods: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included.

Cranial Vault Distraction in Nonsyndromic Sagittal Synostosis.

A multitude of operations exists for the treatment of patients with sagittal craniosynostosis presenting after 6 months of age, of which total cranial vault remodeling now provides the most reliable aesthetic outcome. As our national craniofacial center evolved and began to develop a comprehensive multi-disciplinary team to manage complex surgical cases, we offered cranial vault distraction as an alternative to more invasive surgery for late presentation nonsyndromic scaphocephaly. The authors conducted a retrospective review of all patients undergoing this procedure.

Randomised trial of estimating oral endotracheal tube insertion depth in newborns using weight or vocal cord guide.

Background: When intubating newborns, clinicians aim to position the endotracheal tube (ETT) tip in the midtrachea. The depth to which ETTs should be inserted is often estimated using the infant's weight. ETTs are frequently incorrectly positioned in newborns, most often inserted too far.

Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.

We report the case of a 7-month-old girl with atypical oculo-facio-cardio-dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co-repressor gene (BCOR) (c.4540C>T; p.