The high spatial resolution of cardiac computed tomography (CT) and cardiac magnetic resonance (CMR) permit the diagnosis of congenital ventricular outpouchings (CVOs), including congenital ventricular diverticula (CVD), congenital ventricular aneurysms (CVA), clefts, and crypts. A unique classification has not been established, and these terms are used interchangeably with confounding terminol...

Eight children with paralytic drop foot after intramuscular injections later developed gluteal fibrosis. Sciatic palsy, presenting as equinovarus or equinus deformity, was diagnosed on average 3.8 months after the intragluteal injections, but gluteal fibrosis was not diagnosed until 5.1 years after the injections. In three patients the equinovarus recurred after surgical correction due to persi...

Abstract Vacuolar protein sorting 45 homolog (VPS45), a member of the Sec1/Munc18 (SM) family, has been implicated in regulation endosomal trafficking. VPS45 deficiency human patients results congenital neutropenia, bone marrow fibrosis, and extramedullary renal hematopoiesis. Detailed mechanisms function are unknown. Here, we show an essential role mammalian maintaining intracellular organizat...

PURPOSE Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine th...

To the Editor: Multiple bile duct hamartoma [von Meyenburg complex (VMC)] is a benign liver malformation that includes biliary cystic lesions with congenital hepatic fibrosis causing ductal plate malformations (1–7). It is generally asymptomatic and tends to be identified either at autopsy or during histological examinations (1). We report a very rare case of severe portal hypertension caused b...