Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in fibroblast growth factor receptor 3 (FGFR3) gene. Advances drug treatment for achondroplasia have underscored need to better understand natural history this condition. This article provides critical review and discussion based on current literature evidence perspectives clinicians with extensive kn...

It is argued that there are at least two alleles at the achondroplasia locus: one responsible for classic achondroplasia and one responsible for hypochondroplasia. Homozygosity for the achondroplasia gene produces a lethal skeletal dysplasia; homozygosity for hypochondroplasia has not been described. We report here a child considered to be a genetic compound for the achondroplasia and hypochond...

Achondroplasia is a rare autosomal dominant genetic disease. Research on achondroplasia in China, however, has received little emphasis. Around 80-90% of cases of neonatal achondroplasia result from mutations in fibroblast growth factor receptor 3 (FGFR3) according to polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). Recently, genetic research on achondroplasia in Ch...

We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for ju...

The skeletal dysplasias are a group of more than 450 heritable disorders that affect bone and cartilage, along with muscles, tendons, ligaments. Achondroplasia is one the most common in both current past populations. It can be transmitted intergenerationally, or it result from mutation. This paper aims to describe lesions visible on skeleton 30–45 year old male achondroplasia, who lived during ...

To develop accurate weight for age charts for individuals with achondroplasia. These novel weight for age, gender-specific growth curves for achondroplasia patients from birth through 16 years were constructed from a longitudinal, retrospective, single observer cohort study of 334 individuals with achondroplasia. Weight for age data from 301 subjects in this achondroplasia cohort, constituting ...

Achondroplasia is a difficult prenatal diagnosis to make before the late second and third trimester. We describe two cases where an infant was born prematurely with no overt signs of achondroplasia. Despite multiple chest and abdominal radiographs during the neonatal course, the diagnosis was not made until term equivalent age was reached. We retrospectively reviewed these two cases to highligh...

Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rar...

Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. The G380R mutation accounts for 98% of the achondroplasia cases, and thus has been studied extensively. Here we study the effect of the G375C mutation on the phosphorylation and the cross-linking propensity of full-length FGFR3 in HEK 293 cells, and we compare the results to previo...

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental de...