Comparison of clinical-radiological and molecular findings in hypochondroplasia

Chiara Prinster, Paola Carrera, Maurizia Del Maschio, Giovanna Weber, Mohamad Maghnie, Maria Cristina Vigone, Stefano Mora, Giorgio Tonini, Franco Rigon, Giampiero Beluffi, Francesca Severi, Giuseppe Chiumello, Maurizio Ferrari

Research output: Contribution to journalArticlepeer-review


Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia. Based on the most common radiological criteria, we selected 18 patients with a phenotype compatible with hypochondroplasia. Height, sitting height, and cranial circumference were measured in all patients. Radiographs of the lumbar spine, left leg, pelvis, and left hand were also obtained. The presence of the N540K mutation was verified by restriction enzyme digestions. Half of our patients carried the N540K mutation. Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly. The association of the unchanged/narrow interpedicular distance with the fibula longer than the tibia was more common in patients with gene mutation. Although we did not find a firm correlation between genotype and phenotype, in our study the N540K mutation was most often associated with disproportionate short stature, macrocephaly, and with radiological findings of unchanged/narrow interpedicular distance and fibula longer than tibia.

Original languageEnglish
Pages (from-to)109-112
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number1
Publication statusPublished - Jan 6 1998


  • FGFR3 mutations
  • Genotype/phenotype
  • Hypochondroplasia

ASJC Scopus subject areas

  • Genetics(clinical)


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