Thanatophoric Dwarfism: Two Case Reports and Survey of the Literature

Mark Nissenbaum, Stanley M.K. Chung, Henrietta K. Rosenberg, Billy E. Buck

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Thanatophoric dwarfism is a severe form of short-limbed dwarfism in which cardiorespiratory failure uniformly results in death in the neonatal period. Its radiographic features include markedly flattened vertebral bodies with a typical U-shaped deformity, a flat squat pelvis, and short, bowed extremities with flaring and irregularity of the metaphyses. These char acteristic features distinguish this entity from the two other most commonly confused congenital short-limbed forms of dwarfism—achondroplasia and achondrogenesis. The distinctions are discussed in the text.

Original languageEnglish
Pages (from-to)690-697
Number of pages8
JournalClinical Pediatrics
Issue number8
StatePublished - Aug 1977
Externally publishedYes


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