Literature DB >> 11146472

Cervical spine anomalies and tumors in Weaver syndrome.

T E Kelly1, B A Alford, M Abel.   

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. Copyright 2000 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2000        PMID: 11146472     DOI: 10.1002/1096-8628(20001218)95:5<492::aid-ajmg15>3.0.co;2-t

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  Overgrowth Syndromes.

Authors:  Andrew C Edmondson; Jennifer M Kalish
Journal:  J Pediatr Genet       Date:  2015-09-25

2.  Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.

Authors:  Arnold H Menezes; Timothy W Vogel
Journal:  Childs Nerv Syst       Date:  2008-03-28       Impact factor: 1.475

3.  Sacrococcygeal Teratoma associated with Trisomy 13.

Authors:  Bayram Ali Dorum; Nilgün Köksal; Hilal Özkan; Sabahattin Karakaya; Ahsen Karagözlü Akgül
Journal:  APSP J Case Rep       Date:  2016-06-15
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.