Diastrophic Dysplasia, a Rare Cause of Congenital Dwarfism
Journal Title: Pediatrics & Neonatal Biology Open Access - Year 2016, Vol 1, Issue 1
Abstract
Diastrophic dysplasia (DTD) is a rare skeletal disorder in the spectrum of a specific gene mutation. The term “diastrophos” which means curved or bent in Greek wasfirst reported by Lamy, et al in 1960 from their observation of 3 patient
Authors and Affiliations
Srikanth Sankar Ravisankar
Keywords
Related Articles
- EP ID EP452088
- DOI -
- Views 81
- Downloads 0
Successful T Cell Replete Haploidentical Peripheral Blood Hematopoietic Stem Cell Transplantation in a Young Girl with Diamond Blackfan Anemia
Only curative therapy for DBA is haematopoietic stem cell transplantation (HSCT). Most published cases have used matched related and unrelated donor HSCT. We report a 5 years old girl who diagnosed with DBA at the age of...
Early Onset of Pediatric Autoimmune Pancreatitis at the USMexican Border
Autoimmune pancreatitis (AIP) is an uncommon cause of pancreatitis that favorably responds to steroid therapy. Its true epidemiology remains unclear because only few cases of pediatric AIP have been reported. According t...
The Role of Parental Illness Representations and Parental Coping in the Metabolic Control of Adolescents with Type 1 Diabetes
Background: Parental illness representations and parental coping influence the adaptation process of adolescents with type 1 diabetes. Thus, the purpose of this study was to study the role of family representations in th...
Antibiotic Stewardship - An Overview
Antimicrobial stewardship program (ASP) was formally defined in 2007 by the Infectious Diseases Society of America as "a cluster of interventions targeted towards the improvement and monitoring of appropriate antimicrobi...
Fevre-Languepin Syndrome Popliteal Pterygium Syndrome a Case Report
Popliteal Pterygium Syndrome is characterized by congenital malformations that affect the face, extremities and genitalia. Autosomal dominant inheritance with variable expressivity and incomplete penetrance is widely acc...