McGinnis M R, Mullen J O
Clin Orthop Relat Res. 1987 Jul(220):228-32.
A neonatal boy with cleidocranial dysostosis presented with congenital pseudarthrosis of the tibia. Clinical observation later revealed he also had osteogenesis imperfecta. The osteogenesis imperfecta was classified as Type I and the congenital tibial pseudarthrosis as Type II. Cleidocranial dysostosis, osteogenesis imperfecta, and congenital pseudarthrosis of the tibia have not been previously reported to coexist in one individual.
一名患有锁骨颅骨发育不全的男婴出现先天性胫骨假关节。临床观察后来发现他还患有成骨不全症。成骨不全症被分类为I型,先天性胫骨假关节为II型。此前尚未有锁骨颅骨发育不全、成骨不全症和先天性胫骨假关节同时存在于一个个体中的报道。