Langer Giedion Syndrome with Absence of Bilateral Radial Arteries – A Rare Clinical Association
Journal Title: Journal of Medical Science And clinical Research - Year 2014, Vol 2, Issue 11
Abstract
Langer Giedion syndrome, also known as Trichorhinophalangeal syndrome type 2 (OMIM 150230) is a rare multisystem disorder characterized by distinctive facial features and cartilaginous exostosis. It is a contiguous gene deletion syndrome located on chromosome 8q24.1-q24.13. The characteristic phenotypic features include sparse hair, multiple cone shaped epiphysis, multiple cartilaginous exostoses, bulbous nasal tip, thickened alar cartilage, upturned nares, prominent philtrum, large protruding ears, mild mental retardation and stunting of growth. The authors present a 6 year old boy with classical features of Langer Giedion syndrome with absence of radial artery bilaterally as a rare clinical association which has never been described previously.
Authors and Affiliations
Dr. Riya George
Keywords
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