two case reports of an unusual association between klippel-feil syndrome and amyotrophic lateral sclerosis: do they share same genetic defect?

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ID: 183037
2013
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Abstract
Klippel-Feil syndrome (KFS) is an unusual skeletal disorder characterized by congenital fusion of two or more cervical vertebrae which can be sporadic or familial. KFS emerges to be a failure of the normal segmentation and fusion of the mesodermal somites during 3 rd and 8 th weeks of embryonic development. The triad of low posterior hairline, short neck, and restricted neck motion is present only in 50% and often associated with scoliosis, spina bifida, Sprengel′s deformity, cervical ribs, deafness, cleft palate, renal anomalies, congenital heart defects, and so on because of heterogeneous nature of the disease. The significance of KFS lies in the secondary effects produced on the nervous system, which usually presents with features of progressive cord and brain stem compression with relatively minor trauma. We here report two cases of KFS presented in association with amyotrophic lateral sclerosis. Only two such cases have been described in the literature in 1954 and 1975.
Reference Key
umamaheshwar2013annalstwo Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Koneru Lakshmi Umamaheshwar;Amit Sehrawat;Manoj K Parashar;Kshitij Mavade
Journal Journal of global antimicrobial resistance
Year 2013
DOI
10.4103/0972-2327.120456
URL
http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=705;epage=707;aulast=Umamaheshwar
Keywords
amyotrophic lateral sclerosis diseases of the nervous system sonic hedgehogneurology

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