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Open Access 01-12-2021 | Ehlers-Danlos Syndrome | Case report

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

Authors: Delia Lorenz, Wolfram Kress, Ann-Kathrin Zaum, Christian P. Speer, Helge Hebestreit

Published in: BMC Pediatrics | Issue 1/2021

Abstract

Background

The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter.

Presentation of cases

We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the B4GALT7 gene: c.641G > A and c.723 + 4A > G. B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans.

Conclusions

This is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723 + 4A > G variant of B4GALT7. The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.

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Title: Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency
Authors: Delia Lorenz
Wolfram Kress
Ann-Kathrin Zaum
Christian P. Speer
Helge Hebestreit
Publication date: 01-12-2021
Publisher: BioMed Central
Keyword: Ehlers-Danlos Syndrome
Published in: BMC Pediatrics / Issue 1/2021
Electronic ISSN: 1471-2431
DOI: https://doi.org/10.1186/s12887-021-02767-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

Abstract

Background

Presentation of cases

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Presentation of cases

Conclusions

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