Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta

A case of autosomal dominant transmission

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

Research output: Contribution to journalArticle

5 Citations (Scopus)

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 - Jan 1 1991

Fingerprint

Osteogenesis Imperfecta
Prenatal Diagnosis
Counseling
Pregnancy
Sclera
Skull
Cesarean Section
Fetus
Parturition
Bone and Bones
Type 3 Osteogenesis imperfecta

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology
  • Genetics(clinical)

Cite this

Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta : A case of autosomal dominant transmission. / Phillips, Owen; Shulman, Lee P.; Altieri, Lisa A.; Wilroy, R. Sidney; Emerson, Donald S.; Dacus, John V.; Elias, Sherman.

In: Prenatal Diagnosis, Vol. 11, No. 9, 01.01.1991, p. 705-710.

Research output: Contribution to journalArticle

Phillips, Owen ; Shulman, Lee P. ; Altieri, Lisa A. ; Wilroy, R. Sidney ; Emerson, Donald S. ; Dacus, John V. ; Elias, Sherman. / Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta : A case of autosomal dominant transmission. In: Prenatal Diagnosis. 1991 ; Vol. 11, No. 9. pp. 705-710.
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