Faye-Petersen O M, Knisely A S
Department of Pathology, Primary Children's Medical Center, Salt Lake City.
Am J Dis Child. 1991 Jan;145(1):87-9. doi: 10.1001/archpedi.1991.02160010093023.
Bony abnormalities caused by thanatophoric dysplasia affect the base of the skull and the vertebrae as well as the ribs and appendicular long bones. We present our findings in a full-term infant with thanatophoric dysplasia in whom the posterior fossa, the rostral vertebral column, and the neuraxis at and adjoining the craniovertebral junction were studied by dissection, roentgenography, and histologic examination. In this infant, malformations of the vertebral laminae, most prominent in the basiocciput and atlas vertebra, led to compression of the rostral cervical spinal cord, causing gliosis and focal necrosis. Stenosis of the foramen magnum and spinal canal may contribute to the ventilatory insufficiency that often causes death in patients with thanatophoric dysplasia. We suggest that the causes of death in patients with thanatophoric dysplasia and other severe forms of osteochondrodysplasia should be sought in neuraxial injury rather than attributed solely to pulmonary hypoplasia.
致死性骨发育不良所导致的骨骼异常会影响颅底、椎骨、肋骨以及四肢长骨。我们报告了对一名患有致死性骨发育不良的足月儿的研究结果，通过解剖、X线摄影及组织学检查，对该患儿的后颅窝、脊柱上段以及颅颈交界及其相邻部位的神经轴进行了研究。在这名婴儿中，椎板畸形在枕骨基部和第一颈椎最为明显，导致颈段脊髓上段受压，引起胶质增生和局灶性坏死。枕骨大孔和椎管狭窄可能导致通气不足，这常常是致死性骨发育不良患者死亡的原因。我们认为，致死性骨发育不良及其他严重形式的骨软骨发育不良患者的死亡原因应归结于神经轴损伤，而不应仅仅归因于肺发育不全。
