Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.

Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.

Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.

Accuracy of Three Commercial Wearable Devices for Sleep Tracking in Healthy Adults.

Sleep tracking by consumers is becoming increasingly prevalent; yet, few studies have evaluated the accuracy of such devices. We sought to evaluate the accuracy of three devices (Oura Ring Gen3, Fitbit Sense 2, and Apple Watch Series 8) compared to the gold standard sleep assessment (polysomnography (PSG)). Thirty-five participants (aged 20-50 years) without a sleep disorder were enrolled in a single-night inpatient study, during which they wore the Oura Ring, Fitbit, and Apple Watch, and were monitored with PSG.

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.

Gain-of-function variants in the WDR44 gene have recently been associated with an X-linked ciliopathy-related neurodevelopmental phenotype. Here, we report on a WDR44 loss-of-function (LOF) variant identified in the genome sequence from a male fetus enrolled in the Prenatal Genetic Diagnosis by Genomic Sequencing (PrenatalSEQ) multicenter study. The phenotype is consistent with the described X-linked ciliopathy that includes developmental delay, microcephaly, congenital heart defects, kidney abnormalities, cryptorchidism, musculoskeletal abnormalities, craniofacial dysmorphism, and effusions.