Kyphoscolitic type of Ehlers-Danlos syndrome with prenatal stroke

Background The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia. Case characteristics We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis. Outcome Molecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA. Message Prenatal brain stroke is a rare clinical feature of EDSVIA.