Cutis verticis gyrata due to a novel NPR2 variant

A 30-year-old male had difficulty wearing protective helmet and chest gear due to loose scalp and pectoral skin. Examination confirmed cutis verticis gyrata (CVG) of the scalp and mild arachnodactyly (Figure  1) with dolichocephaly, loose neck and pectoral skin. He had a family history of hypermobility. Recognized causes of CVG include Noonan syndrome, Turner syndrome (45 ×), craniosynostosis due to FGFR2 gene and connective tissue disorders including some types of Ehlers Danlos syndromes. He had no features of any of the known CVG etiologies. Exome sequencing confirmed a novel c.2360G>C (Arg787Pro) variant in the NPR2 gene.
Source: QJM - Category: Internal Medicine Source Type: research