background evaluation of the cerebellum and vermis is one of the integral parts of the fetal cranial anomaly screening. objectives the aim of this study was to create a nomogram for fetal vermis measurements between 17 and 30 gestational weeks. patients and methods this prospective study was conducted on 171 volunteer pregnant women between march 2013 and december 2014. measurements of the feta...

Abstract Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder that usually diagnosed late in pregnancy or postnatally based on pathognomonic midbrain–hindbrain malformation seen magnetic resonance imaging brain, which consists of the hypoplasia cerebellar vermis, thickened superior peduncles, and deepened interpeduncular fossa described as molar tooth sign. The recurr...

P strains of Drosophila are distinguished from M strains by having P elements in their genomes and also by having the P cytotype, a maternally inherited condition that strongly represses P-element-induced hybrid dysgenesis. The P cytotype is associated with P elements inserted near the left telomere of the X chromosome. Repression by the telomeric P elements TP5 and TP6 is significantly enhance...

Cortical dysgenesis is increasingly recognised as a cause of epilepsy. We report a case with double cortex heterotopia and secondarily generalized seizures with a generalised spike wave pattern. During the course of the disease, the child developed electrical status epilepticus in slow wave sleep. From the first examination, sleep pattern revealed increased frequency and amplitude of spindle ac...

OBJECTIVES/HYPOTHESIS We describe management of an infant with chronic aspiration as a result of severe and rarely described laryngeal dysgenesis. RESULTS A neonate with severe maldevelopment of the laryngeal structures required tracheostomy for respiratory distress on day-of-life 1, but the patient continued to have aspiration pneumonias. After failing to improve with conservative measures, ...

Objective To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Design Case report. Setting Herts & Essex Fertility Centre, Cheshunt, UK. Patients A 36-year-old patient with 46, XY gonadal dysgenesis. 31 year old husband with normal sperm analysis. Interventions Chromosomal analysis, Saline infusion sonography, Pipelle endometrial scratch, ICS...