Chen H, Blackburn W R, Wertelecki W
Department of Medical Genetics, University of South Alabama, Mobile 36688, USA.
Am J Med Genet. 1995 Feb 13;55(4):472-7. doi: 10.1002/ajmg.1320550416.
Two newborn infants with fetal akinesia sequence were noted to have multiple perinatal fractures of the long bones. The radiographic manifestations are characterized by gracile ribs, thin long bones, and multiple diaphyseal fractures. Consistent histopathologic changes of bone are irregular with focal areas of extreme diaphyseal thinning, thin and long marrow spicules, and with or without callous formation at fracture sites. Pathogenic mechanisms of bone fractures in fetal akinesia sequence and the differential diagnoses of congenital/perinatal bone fractures are discussed.
两名患有胎儿运动不能序列征的新生儿被发现有多处围产期长骨骨折。放射学表现的特征为肋骨纤细、长骨薄以及多处骨干骨折。骨骼的组织病理学变化一致，表现为不规则，有局部骨干极度变薄区域、纤细且长的骨髓小梁，骨折部位可有或无骨痂形成。本文讨论了胎儿运动不能序列征中骨折的发病机制以及先天性/围产期骨折的鉴别诊断。
