Archives francaises de pediatrie · 1993
[Lethal osteogenesis imperfecta in a Congolese newborn infant].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Moyen G, Nkoua J L, Pongui M, Mafouta A M, Nzingoula S
Аннотация
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.
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.