Sturge–Weber syndrome coexisting with multiple vertebral vascular malformations and hemivertebra with scoliosis and upper limb and ear hypertrophy

Abstract

et al. Sturge-weber syndrome coexisting with multiple vertebral vascular malformations and hemivertebra with scoliosis and upper limb and ear hypertrophy.

Limb Hypertrophy—An Uncommon Presentation Yet a Common Link among Neurocutaneous Syndromes: A Series of Three Cases

“…In such cases, neurological involvement was found to be more common. 12 It is caused by a somatic activating mutation in GNAQ gene and, in some recent cases, in the GNA11 gene. 13 KTS is classically a triad of vascular malformation, varicosities, and hypertrophy.…”