Correlations between physical and ultrasound findings in congenital clubfoot at birth.

Background: At birth, clinical classifications are the only available tools for evaluating the severity of congenital clubfoot. Ultrasound provides an assessment of the anatomical abnormalities. The objective of this study was to assess correlations between physical and ultrasound findings at birth.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.

Holoprosencephaly (HPE) is the most common congenital cerebral malformation, characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been associated with HPE and are often inherited from an unaffected parent, underlying complex genetic bases. It is now emerging that HPE may result from a combination of multiple genetic events, rather than from a single heterozygous mutation.

Arterial spin labeling in clinical pediatric imaging.

Arterial spin labeling (ASL) perfusion-weighted magnetic resonance imaging is the only approach that enables direct and non-invasive quantitative measurement of cerebral blood flow in the brain regions without administration of contrast material and without radiation. ASL is thus a promising perfusion imaging method for assessing cerebral blood flow in the pediatric population. Concerning newborns, there are current limitations because of their smaller brain size and lower brain perfusion.

Umbilical vein varix: Importance of ante- and post-natal monitoring by ultrasound.

Foetal intra-abdominal umbilical vein varix is rare. Colour Doppler ultrasonography helps distinguish this vascular anomaly. A detailed anatomic scan must be performed to exclude associated anomalies: forms associated with additional complications are found in 29 to 35% of the cases.

Whole-body post-mortem computed tomography compared with autopsy in the investigation of unexpected death in infants and children.

Objectives: To investigate the contribution of whole-body post-mortem computed tomography (PMCT) in sudden unexpected death in infants and children.

Methods: Forty-seven cases of sudden unexpected death in children investigated with radiographic skeletal survey, whole-body PMCT and autopsy were enrolled. For imaging interpretation, non-specific post-mortem modifications and abnormal findings related to the presumed cause of death were considered separately.