Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation

Pierangela De Biasio, Federico Prefumo, Maria Baffico, Maurizia Baldi, Manuela Priolo, Margherita Lerone, Paolo Tomà, Pier Luigi Venturini

Research output: Contribution to journalArticlepeer-review


Thanatophoric dysplasia is the most common type of lethal skeletal dysplasia. It can usually be diagnosed with ultrasound, but differential diagnosis with other osteochondrodysplasias is not always possible. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been demonstrated to cause two distinct subtypes of the disorder. We describe a case of thanatophoric dysplasia type I diagnosed at 18 weeks of gestation by ultrasonography. Genomic DNA obtained by chorionic villus sampling showed a C to G substitution at position 746 in the FGFR3 gene, resulting in a Ser249Cys substitution already known to be associated with type I disease. Implications for perinatal management are discussed. Copyright (C) 2000 John Wiley and Sons, Ltd.

Original languageEnglish
Pages (from-to)835-837
Number of pages3
JournalPrenatal Diagnosis
Issue number10
Publication statusPublished - 2000


  • Chorionic villus sampling
  • FGFR3
  • Thanatophoric dysplasia
  • Ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology


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