EDITOR—Achondroplasia (MIM 100800) is one of the most common chondrodysplasias with a prevalence rate of around 1 in 26 000 live births. Inheritance is autosomal dominant, but in around 85% the phenotype is the result of a new mutation. Common features include disproportionate short stature with short limbs, particularly rhizomelic shortening, true megalencephaly with hydrocephalus in a minorit...

Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. It belongs to a group of disorders called chondrodystrophies or osteochondrodysplasias. It is a congenital genetic disorder resulting in rhizomedic dwarfism and is the most common skeletal dysplasia. This case report highlights the oral manifestation of a 3 year old male patient with achondroplasia.

BACKGROUND AND PURPOSE Cine phase-contrast (PC) MR imaging is a convenient and effective method for measuring volumetric flow rates in vivo. We attempted to evaluate changes in blood flow in the superior sagittal sinus (SSS) in children and to assess the hypothesis that restricted venous outflow attributable to stenosis of the jugular vein causes hydrocephalus in achondroplasia. METHODS Blood...

The fibroblast growth factor receptor 3 (FGFR3) gene mutations were identified to be involved in the pathogenesis of most chondropathies. FGFR3 encodes and is regulation bone by limiting ossification long bones. Mutations result abnormal cell proliferation improper cartilage development. We aim provide an overview roles skeletal dysplasia highlighting pathogenesis, clinical variants dysplasia, ...

The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period. Multiple sources of ascertainment, including genetic notes, radiological reports and post mortem findings, were used. 39 cases were identified. Tha...

Achondroplasia is a rare, genetic disorder of skeletal dysplasia with an estimated birth prevalence 4 per 100,000 in North America. People achondroplasia often experience complications requiring hospitalizations. Our objective was to estimate the cost hospital admissions for people US. Using 2017 data from National Inpatient Sample, discharge diagnosis consistent (ICD-10-CM code: Q77.4) any pos...

Activating mutations in FGFR3 cause the most common forms of human dwarfism: achondroplasia and thanatophoric dysplasia. In mouse models of achondroplasia, recent studies have implicated the ERK MAPK pathway, a pathway activated by FGFR3, in creating reduced bone growth. Our recent studies have indicated that increased Fgfr3 and ERK MAPK signaling in chondrocytes also causes premature synchondr...

Autosomal dominant polycystic kidney disease is a multisystem disease involving many organs. An association with other diseases such as tuberous sclerosis, von Hippel-Lindau disease and Marfan syndrome have been previously described. We describe a 35 year old female with achondroplasia who developed polycystic kidney disease involving both kidneys and progressing to end-stage renal disease. To ...

Dwarfism may be due to several musculoskeletal and hormonal growth disorders. The most common cause is considered to be achondroplasia, a condition due to a mutation affecting the fibroblast growth factor receptor (FGFR) gene 3. Achondroplasia occurs with equal frequency in males and females. It is inherited in an autosomal dominant manner. At least 80% of cases result from a random new mutatio...