Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review

Abstract

We have documented the clinical and radiological features of a girl with a severe form of spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type, which is associated with marked articular hypermobility. This condition is to be differentiated clinically from generalized hypermobility syndromes specifically Ehlers-Danlos syndrome and Larsen syndrome. The radiographic differential diagnosis is with the group of spondyloepimetaphyseal dysplasias specifically spondyloepimetaphyseal dysplasia with joint laxity and sponastrime dysplasia.

New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report

“…The facial appearance of EDS may be different from that of SEMDJL1. Usually, most patients with SEMDJL1 show abnormal appearances, while some may have the normal appearance ( 17 ). In this study, the child had a special appearance, a thickened inner canthus, rough skin on the face, and a slightly thick tongue coating, which may be different from the features of EDS ( 18 ).…”

Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66‐year‐old man

“…Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2; MIM:603546)—also, SEMDJL Hall or leptodactylic type—is demarcated by the presence of generalized joint laxity, knee malalignment, slender hands, and short stature (Boyden et al, 2011; Hall et al, 1998, 2002; Min et al, 2011; Tüysüz et al, 2015). Radiological hallmarks include platyspondyly, slender metacarpals and metatarsals, metaphyseal vertical striations and irregularities, and progressive epiphyseal dysplasia with misaligned joints progressing into precocious osteoarthritis (Hall et al, 1998, 2002; Holder‐Espinasse et al, 2004; Kim et al, 2009; Sulko & Kozlowski, 2008). Due to weakened cartilage in the airway tract, tracheolaryngomalacia may arise in neonates, and may be followed by recurrent respiratory tract infections (Boyden et al, 2011; Park et al, 2007; Tüysüz et al, 2015).…”