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. 2017 Mar;173(3):733-739.
doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Keren Machol  1 , Mahim Jain  1 , Mohammed Almannai  1 , Thibault Orand  1 , James T Lu  1   2 , Alyssa Tran  1 , Yuqing Chen  1 , Alan Schlesinger  3 , Richard Gibbs  1   2 , Luisa Bonafe  4 , Ana Belinda Campos-Xavier  4 , Sheila Unger  5 , Andrea Superti-Furga  5 , Brendan H Lee  1 , Philippe M Campeau  6 , Lindsay C Burrage  1
Affiliations

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Keren Machol et al. Am J Med Genet A. 2017 Mar.

Abstract

Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in COL2A1. These two cases together with a third case of SMD corner fracture type with a heterozygous COL2A1 pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies. The finding of one of the pathogenic variants in a previously reported case of spondyloepimetaphyseal dysplasia (SEMD) Strudwick type and the significant clinical similarity suggest an overlap between SMD corner fracture and SEMD Strudwick types. © 2016 Wiley Periodicals, Inc.

Keywords: COL2A1; Sutcliffe type; corner fracture; developmental coxa vara; skeletal dysplasia; spondylometaphyseal dysplasia.

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Figures

Figure 1
Figure 1
Radiographs of patient 1 (a-d) and patient 2 (e-h). For patient 1, note the platyspondyly and the exaggerated lumbar lordosis at age 5 years (a), hypoplastic odontoid process at age 3 years (b). Note leg length discrepancy prior to surgery (radiograph was obtained with a 1.5 cm block under the right foot), ‘corner fracture’ type lesion (arrow) at the right proximal tibia and irregular flared metaphyses with sparing of the epiphyses at age 5 years (c). At the age of 9 years (d), note the wide metaphyses with resolution of the ‘corner fracture’ like lesion. For patient 2, spine radiographs (e) show platyspondyly (age 11 years and 7 months). Right knee radiographs (f) reveal metaphyseal irregularity on the medial side of right proximal tibia and distal femur with small ‘corner fracture’ like lesion on the medial distal femur (arrow). Pelvis radiographs (g) reveal right coxa vara and metaphyseal irregularity. Following surgery for right femoral joint correction (at the age of 12 years and 9 months), radiographs (h) reveal a ‘corner fracture’ like metaphyseal lesion (arrow) in the femoral neck.
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