Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia

Prenat Diagn. 2014 Oct;34(10):1015-7. doi: 10.1002/pd.4415. Epub 2014 Jun 11.


Hypochondroplasia (HCH) is a genetic skeletal dysplasia, inherited in an autosomal dominant fashion. About 50-70% of HCH patients have a mutation in FGFR3 gene and in the majority of cases it is a de novo mutation. Recent magnetic resonance imaging studies on relative large cohorts of HCH patients have showed a central nervous system involvement with a high incidence of characteristic temporal lobe and hippocampal abnormalities. To the best of our knowledge, this report shows the first magnetic resonance imaging prenatal detection of characteristic brain anomalies in a case of HCH, molecularly confirmed through postnatal FGFR3 analysis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone and Bones / abnormalities*
  • Bone and Bones / pathology
  • Dwarfism / pathology*
  • Female
  • Hippocampus / pathology*
  • Humans
  • Limb Deformities, Congenital / pathology*
  • Lordosis / pathology*
  • Magnetic Resonance Imaging*
  • Pregnancy
  • Prenatal Diagnosis*
  • Temporal Lobe / pathology*

Supplementary concepts

  • Hypochondroplasia