Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects

Abstract

Spondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar dysplasia, mild epiphyseal dysplasia of the large joints, and type E-like brachydactyly. These manifestations overlap with those of spondyloperipheral dysplasia (SPD), in which a sporadic case with a mutation of COL2A1 has been reported. We report on three patients (an affected woman and her son and a sporadic case of an affected man) with SED Maroteaux type. The affected adults were severely short along with stubby hands and feet, and one developed myelopathy as a result of thoracolumbar gibbus. The affected child was mildly short at birth, and developed brachydactyly in early childhood. The radiological hallmarks of these patients included severe platyspondyly with square-shaped vertebral bodies, iliac hypoplasia, epiphyseal hypoplasia of the large joints, and strikingly short metacarpals and phalanges. These radiological findings appeared already apparent in early childhood. SED Maroteaux type was radiologically discriminative from SPD. Brachydactyly was much severe in the former than in the latter, and spondylar dysplasia manifestation was different between both disorders. Mutation screen by polymerase chain reaction-direct sequencing for all exons and their flanking regions of COL2A1 did not reveal any mutations in the three patients.

TRPV4‐associated skeletal dysplasias

“…SEDM has been reported mainly in older children and adults [Doman et al, 1990; Nishimura et al, 2003, 2010; Mégarbané et al, 2004] Thus, age‐dependent phenotypic evolution is not well known. Affected individuals present with short stature and short trunk attracting medical attention in early childhood.…”

“…5). Two families appeared to have a slightly milder form of SEDM [Nishimura et al, 2003, 2010]. Affected children presented with mild short stature and brachydactyly.…”

Wnt signaling genes of murine chromosome 15 are involved in sex‐affected pathways of inflammatory arthritis

“…The diagnostic criteria for SEDM‐PM2 were: short stature with marked, progressive shortening of the trunk but absence of significant scoliosis; presence of brachydactyly; and absence of facial deformities, ocular changes, and neurodevelopmental abnormalities [Doman et al, 1990; Nishimura et al, 2003; Megarbane et al, 2004]. None of the patients included here had clinically significant hypoacusis.…”

“…An older patient report [Kochs, 1932] was considered to be an example of spondylo‐epimetaphyseal dysplasia Maroteaux—pseudo‐Morquio type 2 (SEDM‐PM2). More examples of the disorder have been reported [Matteini et al, 1981; Doman et al, 1990; Nishimura et al, 2003; Megarbane et al, 2004]. Unlike Morquio syndrome and the other Morquio‐like conditions reported so far, SEDM‐PM2 is inherited as a dominant, rather than a recessive trait.…”

The Mutation of Transient Receptor Potential Vanilloid 4 (TRPV4) Cation Channel in Human Diseases

“…SEDM is a clinically variable spondyloepiphyseal dysplasia with manifestations limited to the musculoskeletal system. Clinical features include short stature, brachydactyly, platyspondyly, short and stubby hands and feet, epiphyseal hypoplasia of the large joints, and iliac hypoplasia [26]. Both SEDM and parastremmatic dysplasia are part of the TRPV4 dysplasia family and TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes.…”