Heterogeneity of nonlethal severe short-limbed dwarfism

Giovanni Romeo, Jonathan Zonana, David L. Rimoin, Ralph S. Lachman, Charles I. Scott, Elisabeth G. Kaveggia, Jurgen W. Spranger, John M. Opitz

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

The Grebe syndrome is a nonlethal form of severe short-limbed dwarfism which was previously called "achondrogenesis-Brazilian or Grebe type." We have studied three patients with severe short-limbed dwarfism originally considered to have this syndrome. On re-evaluation of their clinical and radiographic features, only one of them had the typical features of the Grebe chondrodysplasia, whereas the other two appear to have clearly distinct, previously unreported skeletal dysplasias. These patients illustrate the heterogeneity that exists among the nonlethal forms of severe short-limbed dwarfism.

Original languageEnglish (US)
Pages (from-to)918-923
Number of pages6
JournalThe Journal of pediatrics
Volume91
Issue number6
DOIs
StatePublished - Dec 1977

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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