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

5 Scopus citations

Abstract

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 characteristic features distinguish this entity from the two other most commonly confused congenital short-limbed forms of dwarism--achondroplasia and achondrogenesis. The distinctions are discussed in the text.

Original languageEnglish (US)
Pages (from-to)690-697
Number of pages8
JournalClinical Pediatrics
Volume16
Issue number8
DOIs
StatePublished - Aug 1977

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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