title: Klippel-Feil syndrome and levo-looped transposition of the great arteries.
abstract: Klippel-Feil syndrome is a skeletal disorder characterised by low hairline and a short neck due to abnormal fusion of two or more cervical vertebrae. Although congenital heart and lung defects are infrequent, some abnormalities such as cor triatriatum, coarctation of the aorta, total anomalous pulmonary venous connection, or lung agenesis have been reported. The challenge of recognising Klippel-Feil syndrome lies in the fact that there is an association of this syndrome with other significant conditions such as skeletal, genitourinary, neurological, ear, and some cardiac defects. We report a Klippel-Feil syndrome type III 14-year-old patient with a levo-looped transposition of the great arteries. In addition, the patient had agenesis of the left upper-lung lobe.
authors.affiliation: 1Cardiology Service,Insular-Materno Infantil University Hospital,Las Palmas de Gran Canaria,Spain.
authors.forename: Efrén
authors.initials: E
authors.lastname: Martínez-Quintana
authors.affiliation: 2Ophthalmology Service,Dr. Negrín University Hospital of Gran Canaria,Las Palmas de Gran Canaria,Spain.
authors.forename: Fayna
authors.initials: F
authors.lastname: Rodríguez-González
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007714:Klippel-Feil Syndrome / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology*; D008168:Lung / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008171:Lung Diseases / Q000000981:diagnostic imaging*; D008297:Male; D014057:Tomography, X-Ray Computed; D014188:Transposition of Great Vessels / Q000175:diagnosis* / Q000473:pathology
keywords: heart defect