Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs

J Matern Fetal Neonatal Med. 2021 Jul;34(13):2217-2220. doi: 10.1080/14767058.2019.1657084. Epub 2019 Sep 12.


Desbuquois dysplasia is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic short stature, joint laxity with multiple joint dislocations, specific radiographic features, and facial dysmorphism. Here, we report a case for which whole exome sequencing allowed early prenatal diagnosis of Desbuquois dysplasia before the detection of characteristic ultrasound signs of the disease.

Keywords: Desbuquois; CANT1; exome; dwarfism; multiple dislocations.

MeSH terms

  • Craniofacial Abnormalities
  • Dwarfism*
  • Exome Sequencing
  • Female
  • Humans
  • Joint Instability
  • Ossification, Heterotopic
  • Polydactyly*
  • Pregnancy
  • Prenatal Diagnosis

Supplementary concepts

  • Desbuquois syndrome