Prenatal detection of Roberts-SC phocomelia syndrome: Report of 2 sibs with characteristic manifestations

D. B. Robins, R. L. Ladda, G. A. Thieme, D. K. Boal, B. S. Emanuel, E. H. Zackai

Research output: Contribution to journalReview article

15 Scopus citations

Abstract

We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat scan at 17 weeks detected tetraphocomelia. Ultrasonography can reliably detect Roberts-SC phocomelia prenatally; however, serial scans may be needed. Postmortem examination of the proposita confirmed the sonographic findings and also disclosed dysplastic kidneys and ovarian dysgenesis. The degree of phenotypic variation observed between the sibs supports the hypothesis that Roberts syndrome and SC phocomelia represent a single genetic entity.

Original languageEnglish (US)
Pages (from-to)390-394
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume32
Issue number3
DOIs
StatePublished - Jan 1 1989

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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