2020, Number 4
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Acta Med 2020; 18 (4)
Klippel-Feil syndrome associated with Sprengel deformity and scoliosis
Domínguez CLG, Domínguez GLG
Language: Spanish
References: 5
Page: 431-432
PDF size: 129.29 Kb.
Text Extraction
No abstract.
REFERENCES
Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. “Clinical triad” findings in pediatric Klippel-Feil patients. Scoliosis Spinal Disord. 2016; 11: 15-16.
Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet. 2013; 92: 157-161.
Gruber J, Saleh A, Bakhsh W, Rubery PT, Mesfin A. The prevalence of Klippel-Feil syndrome: a computed tomography-based analysis of 2,917 patients. Spine Deform. 2018; 6: 448-453.
Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN et al. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015; 167A: 2795-2799.
Kenna MA, Irace AL, Strychowsky JE, Kawai K et al. Otolaryngologic manifestations of Klippel-Feil syndrome in children. JAMA Otolaryngol Head Neck Surg. 2018; 144: 238-243.