[Osteogenesis imperfecta: report of two cases]

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1993 Jan-Feb;34(1):59-65.
[Article in Chinese]

Abstract

Osteogenesis imperfecta (OI) is a heterogenous group of inherited conditions arising from a variety of biochemical and morphological collagen defects. We report 2 cases with a clinical diagnosis of OI. The first case was classified as Silence type IIA. He was delivered at 38 weeks' gestation with severe bowing of long bones, blue sclera and craniotabes at birth. Radiographs showed severe generalized osteoporosis, broad and crumpled long bones, beading ribs and poorly mineralized skull. Histological examination of the long bones revealed the trabecula of the calcified cartilage with an abnormally thin layer of osteoid & the bony trabeculae were thin and basophilic. The second case was classified as Sillence type III. She was delivered at 39 weeks' gestation. Short, bowed lower extremities but normal color of sclerae were noted after birth. Radiographs revealed L't femoral fracture and callus formation of R't 8th rib. She survives till now with gradual deformity of long bone and growth retardation. Because of the poor prognosis of Sillence type II and type III, there is no doubt that accurate genetic counseling and prenatal diagnosis will become important in the management of the disease.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Osteogenesis Imperfecta / classification
  • Osteogenesis Imperfecta / diagnostic imaging
  • Osteogenesis Imperfecta / pathology*
  • Prenatal Diagnosis
  • Radiography