Is Achondroplasia Linked to Stroke? (P6.265)

CONCLUSIONS:This case shows an interesting correlation between achondroplasia and carney complex related myxomas that has not been described in literature before. Achondroplasia is an autosomal dominant mutation in FGFR3 gene on chromosome 4P. Mutaions in carney complex are also described to be autosomal dominant mostly involving chromosome 17q23-q24 . There has been no clear pathogenesis described pertaining this correlation yet but more genetics have to be explored.Study Supported by:Disclosure: Dr. Kaur has nothing to disclose. Dr. Mittal has nothing to disclose. Dr. Hosley has nothing to disclose.

Source: Neurology - April 9, 2014 Category: Neurology Authors: Kaur, H., Mittal, S., Hosley, C. Tags: Cerebrovascular Disease and Interventional Neurology: Case Reports Source Type: research