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Case Reports
. 2020 Nov;182(11):2715-2721.
doi: 10.1002/ajmg.a.61817. Epub 2020 Aug 28.

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

André M Travessa  1   2 , Francisca Díaz-González  3   4 , Teresa Mirco  5 , Filipa Oliveira-Ramos  6 , Manuel Parrón-Pajares  4   7 , Karen E Heath  3   4 , Ana Berta Sousa  1   8
Affiliations
Case Reports

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

André M Travessa et al. Am J Med Genet A. 2020 Nov.

Abstract

Spondyloepiphyseal dysplasia type Stanescu (SED-S) is a very rare type II collagenopathy. We describe an 8-year-old boy who presented with short trunk, C2-C3 vertebral fusion, hand, foot, leg and thigh pain, stiffness and limited joint mobility, and waddling gait. Radiographs showed platyspondyly with anterior wedging and endplate irregularities, broad femoral necks, and large epiphyses and epiphyseal equivalents. Differential diagnosis included progressive pseudorheumatoid dysplasia and SED-S. A skeletal dysplasia custom-designed NGS panel was performed and the heterozygous pathogenic variant c.620G>A; p.(Gly207Glu) in COL2A1 was detected, establishing the diagnosis of SED-S. Vertebral fusions, observed in our patient, have not been previously described in this dysplasia. This variant has not been previously associated with SED-S, but was reported in two other families with spondyloepiphyseal dysplasia. Thus, this case expands the clinical and mutational spectrum of SED-S and demonstrates that SED-S significantly overlaps with other skeletal dysplasias.

Keywords: COL2A1; skeletal dysplasia; spondyloepiphyseal dysplasia type Stanescu; type II collagenopathy.

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References

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