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Bone

Developmental abnormalities

Thanatophoric dwarfism

Reviewers: Dariusz Borys, M.D. (see Reviewers page)
Revised: 2 June 2012, last major update June 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● Also called thanatophoric dysplasia
● “Thanato”: denoting death
● Lethal form of dwarfism
● Occurs in 1 per 20,000 live births

Type I:
● Short, curved femur (National Library of Medicine)

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
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● Variant in 18 week male fetus (Arch Pathol Lab Med 1993;117:322)

Micro description
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● Diminished proliferation of chondrocytes and poor columnization of zone of proliferation

End of Bone > Developmental abnormalities > Thanatophoric dwarfism

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