Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum

Am J Med Genet. 1995 Nov 20;59(3):359-64. doi: 10.1002/ajmg.1320590316.

Abstract

We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / classification*
  • Abnormalities, Multiple / pathology
  • Chromosomes, Human, Pair 17 / genetics*
  • Ellis-Van Creveld Syndrome / classification
  • Ellis-Van Creveld Syndrome / pathology
  • Fatal Outcome
  • Humans
  • Infant, Newborn
  • Male
  • Orofaciodigital Syndromes / classification
  • Orofaciodigital Syndromes / pathology*
  • Sequence Deletion
  • Short Rib-Polydactyly Syndrome / classification
  • Short Rib-Polydactyly Syndrome / pathology*
  • Syndrome