Kyphoscolitic type of Ehlers-Danlos syndrome with prenatal stroke

Abstract

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.

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