Turner syndrome and neurofibromatosis type 1: the unusual combination of two common genetic disorders

Summary: The study revised the diagnostic criteria for neurofibromatosis type 1 (NF1) and established criteria for Legius syndrome (LGSS) by combining major developments in genetics, ophthalmology, dermatology, and neuroimaging. Consensus on minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS was reached, with recommendations for mosaic forms of these conditions. Continued refinement of these new criteria will be necessary to study their diagnostic properties, reconsider criteria not included, and identify new features of the conditions, hence proposing an initiative to periodically update the diagnostic criteria for NF1 and LGSS.