Short syndrome-an expanding phenotype
Ankur Singh1, Ritu Arora, Pratiksha Singh
1Division of Genetics, Departments of Pediatrics, Lok Nayak hospital, New Delhi, India.
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.
More Related Videos
Related Concept Videos
Pleiotropy
Huntington Disease l: Introduction
Karyotyping
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Polygenic Traits
Cellular Adaptation II: Hypertrophy


