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Global Journal of Rare Diseases



Abstract Open Access
Case Report PTZAID:GJRD-1-104

Aarskog-Scott Syndrome: Clinico-Radiological Illustration of a Rare Case

Akanksha Gupta, Ravi Prakash Sasankoti Mohan*, Sumit Goel and Swati Gupta

Aarskog-Scott Syndrome is a rare syndrome and is estimated to occur in 1 in 1 million individuals in general population. It is transmitted in an X-linked recessive manner and occurs due to FGD1 gene mutation. It has facial, genital and digital hands symptoms, musculoskeletal anomalies and affected growth. Here we present a case of Aarskog-Scott syndrome in an 18-year-old male patient with the chief complaint of irregularly placed teeth. In addition to all the classical features, presence of talon cusp was an interesting intraoral finding which has never been reported previously in dental literature.

Published on: Dec 30, 2016 Pages: 10-13

Full Text PDF Full Text HTML DOI: 10.17352/gjrd.000004


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