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Article

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.

European journal of pediatrics - 1 Jan 2015

Abdalla Ebtesam M, Rohrbach Marianne, Bürer Céline, Kraenzlin Marius, El-Tayeby Hazem, Elbelbesy Mervat F, Nabil Amira, Giunta Cecilia

Abstract excerpt

UNLABELLED: The kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA) is a rare recessively inherited connective tissue disorder characterized by bruisable, hyperextensible skin, generalized joint laxity, severe muscular hypotonia at birth and progressive congenital scoliosis or kyphosis. Deficiency of the enzyme lysyl hydroxylase 1 (LH1) due to mutations in PLOD1 results in underhydroxylation of collagen...

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Source

Identifiers

PMID: 25277362
DOI: 10.1007/s00431-014-2429-9

Genes

PLOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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