Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

@article{Camera2001OccurrenceOT,
  title={Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.},
  author={Gianni Camera and Maurizia Baldi and G Strisciuglio and Daniela Concolino and Pierpaolo Mastroiacovo and Maria Baffico},
  journal={American journal of medical genetics},
  year={2001},
  volume={104 4},
  pages={277-81}
}
We report two patients with clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively. Thanatophoric dysplasia is usually a lethal condition, but the patient carrying this mutation is alive and presents a medical history similar to that of patients with achondroplasia. The events leading to such a discrepancy between genotype and phenotype are unclear. These rare cases may… CONTINUE READING