Congenital pseudarthrosis of the tibia associated with cleidocranial dysostosis and osteogenesis imperfecta. A case report.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D011542:Pseudarthrosis / Q000151:congenital* / Q000628:therapy; D013977:Tibia / Q000002:abnormalities*