Cervical spine anomalies and tumors in Weaver syndrome.
Weaver syndrome is an autosomal dominant disorder comprising accelerated growth rate and rapidly advancing skeletal maturation. Previous reports suggest that the phenotype in adults may be sufficiently subtle to make diagnosis difficult. Half brothers with classical childhood findings of Weaver syndrome and their father with minimal clinical findings showed cervical spine anomalies that likely represent a consistent radiographic finding in this disorder. One of the children represents the third occurrence of neoplasia in Weaver syndrome.
Kelly
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Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA. TEK8S@Virginia.edu
Alford
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Abel
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D000293:Adolescent; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007738:Kyphosis / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D011859:Radiography; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics*; D013125:Spinal Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D013724:Teratoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D014463:Ultrasonography