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Indian Pediatrics

, Volume 50, Issue 4, pp 414–416 | Cite as

Short syndrome-an expanding phenotype

  • Ankur Singh
  • Ritu Arora
  • Pratiksha Singh
  • Seema KapoorEmail author
Case Reports

Abstract

The phenotypic description of SHORT syndrome (OMIM-269880) is expanding since its initial description in 1975. There have been 26 Case Reports till date but the genetic locus of this syndrome is elusive. Involvement of PITX2 gene initially envisaged is probably is not the only gene involved but has an important role to play in ocular development. Our case did not demonstrate mutation in PITX2 gene. Here, we report a case of SHORT syndrome with two new unreported features — deviated nasal septum and cryptorchidism and stress on lipodystrophy, a cardinal feature but not a part of the pneumonic SHORT.

Key words

SHORT Syndrome 

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Copyright information

© Indian Academy of Pediatrics 2013

Authors and Affiliations

  • Ankur Singh
    • 1
  • Ritu Arora
    • 2
  • Pratiksha Singh
    • 1
  • Seema Kapoor
    • 1
    • 3
    Email author
  1. 1.Division of Genetics, Departments of PediatricsLok Nayak hospitalNew DelhiIndia
  2. 2.Department of Ophthalmology, Guru Nanak Eye CenterMaulana Azad Medical CollegeNew DelhiIndia
  3. 3.New DelhiIndia

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