Prenatal diagnosis of osteogenesis imperfecta congenita by ultrasonography

Fang Ping Chen*, Liang Che Chang

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

5 Scopus citations

Abstract

As well as being a rare connective tissue disorder, osteogenesis imperfecta congenita (OIC) is also the most severe form of osteogenesis imperfecta (OI). We report a case that was diagnosed by sonography in a fetus at 22 weeks of gestation. The diagnosis was confirmed by postnatal radiography and autopsy. The prenatal sonographic findings were: short bowed femurs with fractures and thin skull with unusual clarity of intracranial structures. The postnatal radiography showed crumbled long bones and beaded ribs compatible with multiple fractures, similar to the prenatal sonographic findings. The major findings on autopsy were deformed skull and ribs and asymmetric deformity of the four extremities. The microscopic findings of the skeleton, including skull, vertebrae, ribs and long bones, revealed normal cartilagenous development but abnormal bone formation. The pathologic features of the skeleton were compatible with osteogenesis imperfecta type II, ie, OIC. Fractures and bone deformities are the cardinal symptoms of OIC which make intrauterine diagnosis possible. It should be differentiated from other types of OI (I, III and IV), as their prognoses are different. As OIC is lethal, the option of pregnancy termination should be offered at the time it is diagnosed. In the present report, termination by extraovular induction was performed immediately after OIC was noted on sonography.

Original languageEnglish
Pages (from-to)386-389
Number of pages4
JournalJournal of the Formosan Medical Association
Volume95
Issue number5
StatePublished - 05 1996

Keywords

  • Bone deformity
  • Fractures
  • Osteogenesis imperfecta
  • Osteogenesis imperfecta congenita
  • Ultrasonography

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