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Article

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

American journal of medical genetics. Part A - 1 Nov 2020

Travessa André M, Díaz-González Francisca, Mirco Teresa, Oliveira-Ramos Filipa, Parrón-Pajares Manuel, Heath Karen E, Sousa Ana Berta

Abstract excerpt

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...

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PMID: 32856782
DOI: 10.1002/ajmg.a.61817

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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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