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Quoted phrase not found in phrase index: "Klippel-Feil syndrome 1, autosomal dominant"
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Tetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report.
Da Broi M, Nouri A, Patet G, Paun L, Bartoli A, Molliqaj G, Schaller K, Tessitore E. Da Broi M, et al. J Med Case Rep. 2023 Dec 23;17(1):528. doi: 10.1186/s13256-023-04263-8. J Med Case Rep. 2023. PMID: 38135884 Free PMC article.
BACKGROUND: Klippel-Feil syndrome is a rare condition described in 1912 by Maurice Klippel and Andre Feil. It is defined as a congenital cervical fusion of at least two vertebrae, associated with a classical triad of clinical signs: short neck, …
BACKGROUND: Klippel-Feil syndrome is a rare condition described in 1912 by Maurice Klippel and Andre Feil …
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Giampietro PF, et al. Am J Med Genet A. 2015 Jan;167A(1):95-102. doi: 10.1002/ajmg.a.36799. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348728
We report on a father and his two daughters diagnosed with Klippel-Feil syndrome (KFS) but with craniofacial differences (zygomatic and mandibular hypoplasia and cleft palate) and external ear abnormalities suggestive of Treacher Collins syndrome (TCS) …
We report on a father and his two daughters diagnosed with Klippel-Feil syndrome (KFS) but with craniofacial difference …