Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who pres...

ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Med...

We use a simplified version of Garicano and Rossi-Hansberg (2005) to understand the impact of improvements in communications technology at the turn of the twentieth century on wages and organization. Improvements in communication technology allow individuals of different skills to abandon self-employment and form teams with each other. In particular, they allow high-skill agents to leverage the...

Corresponding author: Burn Young Heo, M.D., Ph.D., Department of Anesthesiology and Pain Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81, Irwon-ro, Gangnam-gu, Seoul 135-710, Korea. Tel: 82-2-3410-0736, Fax: 82-2-3410-6626, E-mail: [email protected] This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commerc...

Freeman-Sheldon syndrome (FSS) is a rare inherited form of distal arthrogryposis characterized by craniofacial deformities, camptodactyly with ulnar deviation of the fingers, and talipes equinovarus. Less than hundred cases have been reported till 2010 [1-3]. Multiple surgical interventions are needed to provide an acceptable quality of life. Anesthetic complications occur commonly [4, 5]. We p...