Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds.The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number.Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG
Casuistic Use of High-Dose Methylprednisolone in a Child with Acute Encephalopathy due to Metabolic Crisis in HIBCH Deficiency
Abstract 3-hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is a rare metabolic disease.Early symptoms include poor feeding, seizures, hypotonia and impaired psychomotor development.Acute metabolic crisis can cause encephalopathy with high risk of neurological sequelae or death.Casuistic, we here report a nine-year old Danish girl with HIBCHD tr
Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein.Resulting from low levels of the Survival of Motor Neuron (SMN) protein, spinal muscular atrophy manifests mainly as a lower motor neuro
Brushed Aside: Unusual Lodgment of a Toothbrush in the Infraorbital Region - A Case Report
Foreign objects found in the oral and maxillofacial region a common encounter for surgeons specializing in oral and maxillofacial surgery OMFS often result from incidents of assault trauma or insufficient postoperative assessment.Identifying these Tree Branch Floating Shelf objects can pose a diagnostic challenge for trauma surgeons.It mainly depen