TY  - JOUR
A1  - Lorenz, Delia
A1  - Kress, Wolfram
A1  - Zaum, Ann-Kathrin
A1  - Speer, Christian P.
A1  - Hebestreit, Helge
T1  - Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency
JF  - BMC Pediatrics
N2  - 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.
KW  - connective tissue disorder
KW  - spondylodysplastic Ehlers-Danlos syndrome
KW  - B4GALT7 gene
KW  - case report
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-261084
VL  - 21
ER  -