Erfanul Saker1,2, Marios Loukas3, Rod J Oskouian4, R Shane Tubbs5. 1. Department of Anatomical Sciences, St. George's University, Grenada. esaker@sgu.edu. 2. , 37-15 78th Street, Jackson Heights, New York City, NY, 11372, USA. esaker@sgu.edu. 3. Department of Anatomical Sciences, St. George's University, Grenada. 4. Swedish Neuroscience Institute, Swedish Medical Center, Seattle, WA, USA. 5. Seattle Science Foundation, Seattle, WA, USA.
Abstract
INTRODUCTION: Our knowledge and understanding of vertebral fusion, defined and eponymously known as Klippel-Feil syndrome in the early 1900s, have a long history. This uncommon finding has been identified as early as 500 B.C. in an Egyptian mummy. Many more examples of spinal vertebra fusion have been described by Greek historians and recovered by archeologists demonstrating this entity's rich history. CONCLUSIONS: Klippel-Feil syndrome is a rare skeletal anomaly characterized by abnormal fusion of two or more vertebrae. With the advent of newer molecular technology and genetic discoveries, we now have a better understanding of the etiology and possible pathogenesis of this disease.
INTRODUCTION: Our knowledge and understanding of vertebral fusion, defined and eponymously known as Klippel-Feil syndrome in the early 1900s, have a long history. This uncommon finding has been identified as early as 500 B.C. in an Egyptian mummy. Many more examples of spinal vertebra fusion have been described by Greek historians and recovered by archeologists demonstrating this entity's rich history. CONCLUSIONS:Klippel-Feil syndrome is a rare skeletal anomaly characterized by abnormal fusion of two or more vertebrae. With the advent of newer molecular technology and genetic discoveries, we now have a better understanding of the etiology and possible pathogenesis of this disease.
Authors: V Giuffra; A Vitiello; S Giusiani; A Fornaciari; D Caramella; N Villari; G Fornaciari Journal: Clin Exp Rheumatol Date: 2009 Jul-Aug Impact factor: 4.473
Authors: Ender Karaca; Ozge O Yuregir; Sevcan T Bozdogan; Huseyin Aslan; Davut Pehlivan; Shalini N Jhangiani; Zeynep C Akdemir; Tomasz Gambin; Yavuz Bayram; Mehmed M Atik; Serkan Erdin; Donna Muzny; Richard A Gibbs; James R Lupski Journal: Am J Med Genet A Date: 2015-08-04 Impact factor: 2.802