Literature DB >> 31577545

Klippel-Feil syndrome: a review of the literature.

Rim Frikha1.   

Abstract

Klippel-Feil syndrome is a congenital defect in the formation or segmentation of the cervical spine. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated clarification of the genetic causes and management of patient's with congenital vertebral fusion. In this review, we focussed on clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil syndrome. We insist on comprehensive evaluation and delineation of diagnostic and prognostic classes.

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Year:  2020        PMID: 31577545     DOI: 10.1097/MCD.0000000000000301

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  2 in total

1.  Prevalence and Risk Factors of Surgical Treatment for Klippel-Feil Syndrome.

Authors:  Linyao Ding; Xin Wang; Yu Sun; Fengshan Zhang; Shengfa Pan; Xin Chen; Yinze Diao; Yanbin Zhao; Tian Xia; Weishi Li; Feifei Zhou
Journal:  Front Surg       Date:  2022-06-07

2.  Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Authors:  Thomas A Ravenscroft; Jennifer B Phillips; Elizabeth Fieg; Sameer S Bajikar; Judy Peirce; Jeremy Wegner; Alia A Luna; Eric J Fox; Yi-Lin Yan; Jill A Rosenfeld; Jonathan Zirin; Oguz Kanca; Paul J Benke; Eric S Cameron; Vincent Strehlow; Konrad Platzer; Rami Abou Jamra; Chiara Klöckner; Matthew Osmond; Thomas Licata; Samantha Rojas; David Dyment; Josephine S C Chong; Sharyn Lincoln; Joan M Stoler; John H Postlethwait; Michael F Wangler; Shinya Yamamoto; Joel Krier; Monte Westerfield; Hugo J Bellen
Journal:  Genet Med       Date:  2021-06-10       Impact factor: 8.822

  2 in total

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