Cervical spine anomalies and tumors in Weaver syndrome.

Abstract

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.

• Authors: T E Kelly, B A Alford, M Abel
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 95 Issue 5 Pg. 492-5 (Dec 18 2000) ISSN: 0148-7299 [Print] United States
• PMID: 11146472 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2000 Wiley-Liss, Inc.

Topics

• Adolescent
• Adult
• Cervical Vertebrae (abnormalities, diagnostic imaging)
• Child
• Child, Preschool
• Female
• Genes, Dominant
• Growth Disorders (genetics)
• Humans
• Kyphosis (diagnosis, genetics)
• Magnetic Resonance Imaging
• Male
• Phenotype
• Radiography
• Scoliosis (diagnosis, genetics)
• Spinal Neoplasms (diagnostic imaging, genetics, pathology)
• Syndrome
• Teratoma (diagnostic imaging, genetics, pathology)
• Ultrasonography