Bone
Developmental abnormalities
Thanatophoric dwarfism

Author: Dariusz Borys, M.D. (see Authors page)

Revised: 14 September 2016, last major update June 2012

Copyright: (c) 2003-2016, PathologyOutlines.com, Inc.

PubMed Search: Thanatophoric dwarfism
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
Micro Description
  • Diminished proliferation of chondrocytes and poor columnization of zone of proliferation