Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke.

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.
PMID: 28667723 [PubMed - in process]

Source: Indian Pediatrics - June 15, 2017 Category: Pediatrics Authors: Zahed-Cheikh M, Tosello B, Coze S, Gire C Tags: Indian Pediatr Source Type: research