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  • Title: [Lethal osteogenesis imperfecta in a Congolese newborn infant].
    Author: Moyen G, Nkoua JL, Pongui M, Mafouta AM, Nzingoula S.
    Journal: Arch Fr Pediatr; 1993 Dec; 50(10):891-3. PubMed ID: 8053769.
    Abstract:
    BACKGROUND: Several forms of osteogenesis imperfecta have been described. The perinatally lethal forms (type II of Sillence) have been subclassified into groups A, B and C on the basis of radiological features. This report describes a case of type IIA. CASE REPORT: A female Congolese baby was born at term to healthy, non-consanguineous parents. No ultrasonographic studies were done during the pregnancy. The newborn suffered from acute respiratory distress at birth. Clinical examination showed bone abnormalities: shortened and bowed limbs with crepitation at mobilization, soft calvaria and narrow rib cage. X-rays showed short, broad, bowed long bones with signs of fractures; the ribs were thin and beaded; wormian bones were seen in the skull. The newborn died from respiratory distress at the age of 5 hours. All clinical and X-rays investigations of the parents, the elder brother and cousins were normal. CONCLUSION: This baby seems to have suffered from a lethal form of osteogenesis imperfecta, probably type IIA of Sillence.
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