Visualization of caudothalamic groove at expert fetal neurosonography.

Objectives: To describe the sonographic features of the caudothalamic groove in the third trimester of pregnancy in a group of structurally normal fetuses and to report a small series of cases with abnormal appearance of the caudothalamic groove at antenatal cranial ultrasound.

Methods: This was an observational study conducted at two fetal medicine referral units in Italy. A non-consecutive cohort of pregnant women with a singleton non-anomalous pregnancy were recruited prospectively and underwent three-dimensional (3D) ultrasound assessment of the fetal brain at 28-32 weeks' gestation.

The "cortical invagination sign": a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum.

Background: Agenesis of the corpus callosum is associated with several malformations of cortical development. Recently, features of focal cortical dysgyria have been described in fetuses with agenesis of the corpus callosum.

Objective: This study aimed to describe the "cortical invagination sign," a specific sonographic feature of focal cortical dysgyria, which is consistently seen at midtrimester axial brain ultrasound in fetuses with complete agenesis of the corpus callosum.

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the gene associated with microcephalic osteodysplastic primordial dwarfism type II.

We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction.

A patient with mosaic USP9X gene variant.

The finding of USP9X variants in females has been associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome featured by developmental delay and distinct congenital anomalies. Here, we report a female fetus with MRXS99F due to a novel frameshift variant, c.6679_6685delAAATTATinsTCCTG (p.