Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)

Rita Mingarelli, Alessandro Castriota Scanderbeg, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.

Original languageEnglish
Pages (from-to)884-886
Number of pages3
JournalJournal of Medical Genetics
Volume33
Issue number10
Publication statusPublished - 1996

Keywords

  • Autosomal recessive inheritance
  • Blepharophimosis
  • OSA syndrome
  • Skeletal defects

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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