Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009

摘要

A case of Moyamoya disease in a 2-year-old French girl with dysmorphic features, cafe-au-lait spots, and thalamic hypersignals on brain MRI was reported by our group in this journal in 2009 (Bertoli et al., 2009). The child also presented with mild motor and growth delay, associated with relative macrocrania, and congenital heart defects (atrial and ventricular septal defects).