Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely …

Two proα1 (IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2 (IV)
chain encoded by COL4A2 and are the major component of the basement membrane in …

Pediatric chest MRI is challenging. High-resolution scans of the lungs and airways are
compromised by long imaging times, low lung proton density and motion. Low signal is a problem …

For effective clinical management of cystic fibrosis (CF) lung disease it is important to closely
monitor the start and progression of lung damage. The aim of this study was to investigate …

Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles,
cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of …

OBJECTIVE “Cerebellar mutis” and subsequent dysarthria (MSD) is a documented complication
of posterior fossa surgery in children. In this prospective study the following risk factors …

PURPOSE: To retrospectively compare thin-section computed tomographic (CT) scores
obtained with five scoring systems for assessment of pulmonary disease in children with cystic …

Background: Porencephaly (cystic cavities of the brain) is caused by perinatal vascular
accidents from various causes. Several familial cases have been described and autosomal …

Rationale: Low-dose radiation from computed tomography (CT) may increase the risk of
certain cancers, especially in children. Objective: We sought to estimate the excess all-cause …

Cerebral palsy due to perinatal injury to cerebral white matter is usually not caused by
genetic mutations, but by ischemia and/or inflammation. Here, we describe an autosomal-…