Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: A case of autosomal dominant transmission

Owen P. Phillips*, Lee P. Shulman, Lisa A. Altieri, R. Sidney Wilroy, Donald S. Emerson, John V. Dacus, Sherman Elias

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

A 21 ‐year‐old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non‐contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance.

Original languageEnglish (US)
Pages (from-to)705-710
Number of pages6
JournalPrenatal Diagnosis
Volume11
Issue number9
DOIs
StatePublished - Sep 1991

Keywords

  • Osteogenesis imperfecta type III
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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