[症例報告]Pulmonary Hypoplasia and Chondrocyte p21^<CIP1> Expression in Patients with Lethal Short-limbed Dwarfism
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Lethal short-limbed dwarfism is a rare disorder associated with chondrodysplasia, micromeha, and severe pulmonary hypoplasia. Thus, most of the affected infants are stillborn or die shortly because of respiratory insufficiency. Two autopsy cases of lethal short-limbed drawfism are presented in this article. Both stillborn infants had markedly short extremities and small thorax. Pulmonary alveolar cells were immature and air apace was diminished. Chondrocytes of a long bone showed hypertrophy and irregular arrangement. Growth plate chondrocytes displayed a significant expression of the p21^<CIP1> protein. This is the systematic examination of the autopsy cases that highlight pulmonary hypoplasia and chondrocyte p21^CIPI1 expression in patients with lethal short-limbed dwarfism.
- 琉球医学会,Ryukyu Medical Associationの論文
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