Bone
Developmental abnormalities
Thanatophoric dwarfism



Topic Completed: 1 June 2012

Revised: 26 December 2018

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PubMed Search: Thanatophoric dwarfism
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Cite this page: Borys D Thanatophoric dwarfism. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/bonethanatophoric.html. Accessed February 19th, 2019.
Definition / general
  • Also called thanatophoric dysplasia
  • “Thanato”: denoting death
  • Lethal form of dwarfism
  • Occurs in 1 per 20,000 live births


    Type II:
  • Straighter femur with cloverleaf skull
  • Mutation in FGFR3 gene, but different from that in achondroplastic dwarfism

    Clinical:
  • Micromelia (short limbs)
  • Frontal bossing with relative macrocephaly (abnormally large and hyperconvoluted temporal lobes)
  • Small chest
  • Bell shaped abdomen
  • Die at birth or shortly thereafter from respiratory insufficiency due to small thoracic cavity
Case reports
Microscopic (histologic) description
  • Diminished proliferation of chondrocytes and poor columnization of zone of proliferation