Klippel-Feil syndrome; a constellation of associated anomalies.
Of fifty patients with the diagnosis of Klippel-Feil syndrome, less than half had the classic clinical triad of findings, while more than half had scoliosis, and a third had renal anomalies. All patients were at risk of having other serious, but less apparent, anomalies, including: Sprengel's deformity (twenty-one patients), impairment of hearing (fifteen patients), synkinesia (nine patients), and congenital heart disease (seven patients). The discovery of one of these lesions should, therefore, stimulate a careful search for associated anomalies.
D000015:Abnormalities, Multiple / Q000150:complications*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000150:complications; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D007714:Klippel-Feil Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D008297:Male; D009069:Movement Disorders / Q000150:complications; D011859:Radiography; D012540:Scapula / Q000002:abnormalities; D012600:Scoliosis / Q000150:complications