Short syndrome-an expanding phenotype.

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.

• Authors: Ankur Singh, Ritu Arora, Pratiksha Singh, Seema Kapoor
• Journal: Indian pediatrics (Indian Pediatr) Vol. 50 Issue 4 Pg. 414-6 (Apr 2013) ISSN: 0974-7559 [Electronic] India
• PMID: 23665600 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Consanguinity
• Face (abnormalities)
• Fundus Oculi
• Growth Disorders (genetics, pathology)
• Humans
• Hypercalcemia (genetics, pathology)
• Iris (abnormalities)
• Male
• Metabolic Diseases (genetics, pathology)
• Nephrocalcinosis (genetics, pathology)
• Phenotype