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Journal Articles Indian pediatrics Year : 2017

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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hal-03828880 , version 1 (25-10-2022)

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Meriem Zahed-Cheikh, Barthélémy Tosello, Stéphanie Coze, Catherine Gire. Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke.. Indian pediatrics, 2017, 54 (6), pp.495--497. ⟨10.1007/s13312-017-1054-x⟩. ⟨hal-03828880⟩

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