Rothmund Thomson Syndrome

A video excerpt from BCM on this rare genetic condition called Rothmund Thomson Syndrome. This was taken after the 1st Rothmund-Thomson Syndrome (RTS) Meeting in 2007 in Houston and features Ria Chadha an eight year old girl from England. Her characteristic features include • A Characteristic rash: poikiloderma • Small stature • Hyperkeratosis (thickened skin) • Skeletal dysplasias, radial ray defects where she cannot fully turn her arm • Dental and nail abnormalities • Gastrointestinal disturbance • Thyroid problems • Calcium and Vitamin D, E deficiencies • Thin bones etc It features the leading specialist n this area Dr Lisa Wang who is particularly studying the highly problematic bone (Osteosarcoma) and skin cancer which are some of the other features of this syndrome. Note some people consider RTS to be a premature aging condition, however this is not proven.

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YouTube | May 2, 2008

Tags:. .etc. .england. .rare. .skin. .consid