Dysspondylochondromatosis

American Journal of Medical Genetics
P FreisingerP Maroteaux

Abstract

We report on 3 unrelated patients with an unusual form of neonatal dwarfism with unequal limb length. Radiographs show multiple enchondromatosis of the tubular and the flat bones and severe segmentation abnormalities of the vertebral column. These observations differ from the hitherto described forms of multiple enchondromatosis with growth disorders of the spine, spondyloenchondroplasia, and others. Therefore we propose to delineate this disorder as a new entity.

References

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Citations

Jan 11, 1996·American Journal of Medical Genetics·J P FrynsH Van den Berghe
Oct 12, 2012·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·Ali Al KaissiFranz Grill
Jul 14, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Andrea Superti-FurgaGen Nishimura
Dec 21, 2013·American Journal of Medical Genetics. Part a·Frédéric Tran Mau-ThemDavid Geneviève
May 12, 2005·American Journal of Medical Genetics. Part a·R BhargavaJ Spranger
Oct 12, 2010·The Journal of Bone and Joint Surgery. American Volume·Andrew GhatanErnest Conrad
Jul 9, 1998·The Journal of Bone and Joint Surgery. American Volume·P G Gabos, J R Bowen
Nov 14, 2020·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Atsuhiko HandaGen Nishimura

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