出生前に診断し得た先天性骨形成不全症の一症例

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  • A Case of Osteogenesis Imperfecta Congenita Diagnosed in Utero
  • シュッショウゼン ニ シンダンシエタ センテンセイ ホネ ケイセイ フゼンショ

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Osteogenesis imperfecta is a rare disorder characterized by abnormal fragility of the bones resulting in fractures after minimal trauma, blue sclerotics, and deafness because of osteosclerosis.<br>Recently, we have experienced a case of osteogenesis imperfecta congenita diagnosed in utero.<br>A 24 year-old woman, gravida 1, para 1, who complained of weak fetal movement. The presentation and position of the fetus in the uterus was obscure at 35 weeks. We took prenatal X-ray film and fetography. Prenatal X-ray film did not show the fetal bone clearly, and fetography showed that the extremities were short. Consequently, we diagnosed osteogenesis imperfecta congenita in utero.<br>The external appearance of the newborn showed enlargement of the head, softness of the calvarium, deformity of the extremities, and blue sclera. The X-ray film of the newborn showed multiple fractures of the ribs extremities. According to the laboratory findings of the case, serum calcium and lymphatic cells were increased. Because ribs and vertebrae showed disturbance of ossification, histopathological diagnosis was osteogenesis imperfecta congenita.

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