Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mutation (G380R) in the transmembrane region of fibroblast growth factor receptor 3 (FGFR3). We used gene targeting to introduce the human achondroplasia mutation into the murine FGFR3 gene. Heterozygotes for this point mutation that carried the neo cassette were normal whereas neo+ homozyg...

OBJECTIVES The fibroblast growth factor receptor 3 gene (FGFR3) plays a critical role in cartilage growth-plate differentiation and bony development. It has been shown that 97% of patients with achondroplasia have a G to A transition mutation at position 1138 (c.1138 G>A) of codon 380 of the FGFR3 gene. DESIGN AND METHODS Exon 8 of the FGFR3 gene was analyzed in 40 patients with achondroplasi...

Down's syndrome in association with various other chromosomal disorders such as Klinefelter's, Turner's, trisomy 15, and triple X (Penrose and Smith, 1966), are well known. Other combinations of Down's syndrome with various metabolic disorders (e.g. hypothyroidism and diabetes mellitus (Daniels and Simon, 1968)) have also been reported. An unusual patient was recently seen at Columbus Children'...

Achondroplastic individuals are associated with increased cardiac risk when compared to the general population. Coronary interventions in patients with achondroplasia have not been studied previously. We report the case of a 32-year-old male smoker with achondroplasia who presented with acute chest pain of 3 hours duration. He was diagnosed with acute inferior and right ventricular myocardial i...

INTRODUCTION Achondroplasia is the most common reason for disproportionate short stature. Normally, orthopedic limb lengthening procedures must be discussed in the course of this genetic disorder and have been successful in numerous achondroplastic patients in the past. In some cases, the disease may lead to leg length differences with need for surgical correction. CASE REPORT We report a cas...

Forty-eight patients with achondroplasia and 24 with hypochondroplasia have been reviewed in order to clarify the differences between the two disorders and establish the height, body proportions and other clinical and radiological variations within each group. Some of the "classical" findings in achondroplasia are not always present, and hypochondroplasia at its most severe is indistinguishable...