Searchable abstracts of presentations at key conferences in endocrinology

ea0012oc13 | Placenta, bone and genetics | SFE2006

A kindred with Carney Complex due to a novel PRKAR1A gene mutation (c1067_1070 del AACG ins GCCCA)

Strey C , Randall J , Conroy S , Horvath A , Weissberg P , Berman L , Dixon A , Hoffman G , Cooper J , Firth H , Wood D , Simpson H , Chatterjee K , Stratakis C , Melvin A , Gurnell M

RP (a 60 yr-old male) was found to have multiple atrial myxomata, whilst being investigated for recurrent attacks of amaurosis fugax affecting his left eye. During the preceding twenty years he had undergone repeated resections of cutaneous tumours, which were reported as neurofibromata. A clinical diagnosis of Carney Complex (CNC) was made based on the presence of multiple cutaneous nodules and atrial myxomata. RP displayed mild acromegalic features, but no pigmentation abnor...