alexa An unusual Presentation and Novel Gene Mutation

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

An unusual Presentation and Novel Gene Mutation

Patient was born at term and was admitted on day 1 of life for seizure like activity. Severe osteopenia changes were discovered incidentally on chest x-ray obtained for NG tube placement at 3 weeks of life. Lab evaluation showed very low alkaline phosphatase levels and hypercalcemia. Skeletal survey showed severe rachitic changes in long bone with metaphyseal fraying widening and cupping.

Citation: Alvina R Kansra (2015) Infantile Hypophosphatasia: An unusual Presentation and Novel Gene Mutation.Adv Genet Eng 3:i102. doi:10.4172/2169-0111.1000i102

 
  • Share this page
  • Facebook
  • Twitter
  • LinkedIn
  • Google+
  • Pinterest
  • Blogger
 
adwords