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

• Published in: American journal of medical genetics. Part A Vol. 182; no. 11; pp. 2715 - 2721
• Main Authors: Travessa, André M., Díaz‐González, Francisca, Mirco, Teresa, Oliveira‐Ramos, Filipa, Parrón‐Pajares, Manuel, Heath, Karen E., Sousa, Ana Berta
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.11.2020; Wiley Subscription Services, Inc
• Subjects: Bone dysplasia; COL2A1; Collagen; Collagen (type II); Differential diagnosis; Dysplasia; Epiphysis; Gait; Progressive pseudorheumatoid dysplasia; Radiography; skeletal dysplasia; Skeleton; spondyloepiphyseal dysplasia type Stanescu; type II collagenopathy; Vertebrae; spondyloepiphyseal dysplasia type Stanescu; COL2A1; type II collagenopathy; skeletal dysplasia
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.61817

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.