Short rib-polydactyly syndrome: More evidence of a continuous spectrum

Kyriake Sarafoglou, Edmund F. Funai, Nancy Fefferman, Laura Zajac, Nancy Geneiser, Michael J. Paidas, Alba Greco, Robert Wallerstein

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

We report a fetus with radiological features of the four established types of short rib-polydactyly syndrome (SRPS). The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.

Original languageEnglish (US)
Pages (from-to)145-148
Number of pages4
JournalClinical Genetics
Volume56
Issue number2
DOIs
StatePublished - 1999

Keywords

  • Prenatal diagnosis
  • Short rib-polydactyly syndrome
  • Skeletal dysplasia
  • Variable expressivity

Fingerprint Dive into the research topics of 'Short rib-polydactyly syndrome: More evidence of a continuous spectrum'. Together they form a unique fingerprint.

Cite this