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BackgroundThe kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia.Case characteristicsWe report two children with perinatal stroke; accompanied by neonatal joint… Click to show full abstract
BackgroundThe kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia.Case characteristicsWe report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis.OutcomeMolecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA.MessagePrenatal brain stroke is a rare clinical feature of EDSVIA.
Journal Title: Indian Pediatrics
Year Published: 2017
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