PURPOSE OF REVIEW The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe. RECENT FINDINGS Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to abse...

The structure of the locus encoding the major cartilage collagen gene (COL2A1) was studied in a total of 19 cases of achondroplasia. No gross rearrangements were seen. The segregation of COL2A1 was examined in three affected kindreds using restriction site and length variants as genetic markers. In two kindreds discordant segregation between the achondroplasia and COL2A1 loci was demonstrated. ...

Ossification of the ligamentum flavum (OLF) was discovered by Polgar and further described by Yamaguchi and Isuruni [1]. Among the thoracic myelopathies, its incidence is less than that of ossification of the posterior longitudinal ligament (OPLL) and higher than that of herniated nucleus pulposus (HNP) [1]. It is mostly prevalent in Japan and other East Asian countries such as Korea and China ...

Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence. Non-profit academic project, developed under the open access initiative 212 ABSTRACT Introduction: Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with ...

BACKGROUND The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. CASE PRESEN...

PURPOSE Achondroplasia is the most common form of skeletal dysplasia, affecting more than 250 000 individuals worldwide. In these patients, the developing knee undergoes multiple anatomical changes. The purpose of this study was to characterise the intra-articular knee anatomy in children with achondroplasia who underwent knee arthroscopy. METHODS Records of achondroplasia patients who underw...