Nevo syndrome
Because some of these patients present clinical features similar to those of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1, we studied seven patients with Nevo syndrome, three of whom have previously been reported, and four of whom are new.
Because some of these patients present clinical features similar to those of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in <span class="gene" id="15666309-4-249-254">PLOD1</span>, we studied seven patients with <span class="disease" id="15666309-4-287-300">Nevo syndrome</span>, three of whom have previously been reported, and four of whom are new.