AustralieFrV1, Main, Exploration, bibRecord, 00C144

Schmid type metaphyseal chondrodysplasia : a spondylometaphyseal dysplasia identical to the "Japanese" type

Identifieur interne : 00C144 ( Main/Exploration ); précédent : 00C143; suivant : 00C145

Schmid type metaphyseal chondrodysplasia : a spondylometaphyseal dysplasia identical to the "Japanese" type

Auteurs : R. Savarirayan [États-Unis, Australie] ; V. Cormier-Daire [États-Unis, France] ; R. S. Lachman [États-Unis] ; D. L. Rimoin [États-Unis]

Source :

Pediatric radiology [ 0301-0449 ] ; 2000.

RBID : Pascal:00-0386189

Descripteurs français

Pascal (Inist)
- Chondrodysplasie métaphysaire Schmid, Radiographie, Rachis, Dysplasie spondylométaphysaire, Diagnostic, Enfant.
Wicri :
- topic : Enfant.

English descriptors

KwdEn :
- Child, Diagnosis, Radiography, Schmid metaphyseal chondrodysplasia, Spine, Spondylometaphyseal dysplasia.

Abstract

Background. Schmid-type metaphyseal chondrodysplasia (Schmid MCD) is an autosomal dominant chondrodysplasia resulting from various mutations in the COL10A1 gene. This disorder has been well delineated at a clinical level and has been classified radiographically as a pure metaphyseal chondrodysplasia. A missense mutation in the COL10A1 gene has also been shown to cause a rare spondylo-metaphyseal chondrodysplasia (SMD) named the "Japanese" type which, apart from exhibiting a mild spinal phenotype, shares striking clinical and radiographic similarities to Schmid MCD. Objective. The clinical, radiographic and molecular similarities between Schmid MCD and Japanese SMD led to the hypothesis that these conditions could be identical type X collagenopathies. Materials and methods. We analyzed 33 cases of typical Schmid MCD from the International Skeletal Dysplasia Registry, looking specifically for any radiographic evidence of spinal involvement. Results. We found that in 9.1% (3/ 33) of cases reviewed there was definite radiographic evidence of spinal involvement comprising mild platy-spondyly, vertebral body abnormalities, and end-plate irregularity. Conclusion. These data indicate that spinal changes are an uncommon but variable component of Schmid MCD and that this condition and "Japanese" SMD are identical collagen type X disorders. Furthermore, the fact that the specific mutation reported in the family with Japanese type SMD, resulting in the substitution of a glutamic acid residue for a glycine at codon 595 (G595 E), has also been reported in a patient with Schmid MCD strongly supports this conclusion.

Affiliations:

Links toward previous steps (curation, corpus...)

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Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Chondrodysplasie métaphysaire Schmid</term>
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<front><div type="abstract" xml:lang="en">Background. Schmid-type metaphyseal chondrodysplasia (Schmid MCD) is an autosomal dominant chondrodysplasia resulting from various mutations in the COL10A1 gene. This disorder has been well delineated at a clinical level and has been classified radiographically as a pure metaphyseal chondrodysplasia. A missense mutation in the COL10A1 gene has also been shown to cause a rare spondylo-metaphyseal chondrodysplasia (SMD) named the "Japanese" type which, apart from exhibiting a mild spinal phenotype, shares striking clinical and radiographic similarities to Schmid MCD. Objective. The clinical, radiographic and molecular similarities between Schmid MCD and Japanese SMD led to the hypothesis that these conditions could be identical type X collagenopathies. Materials and methods. We analyzed 33 cases of typical Schmid MCD from the International Skeletal Dysplasia Registry, looking specifically for any radiographic evidence of spinal involvement. Results. We found that in 9.1% (3/ 33) of cases reviewed there was definite radiographic evidence of spinal involvement comprising mild platy-spondyly, vertebral body abnormalities, and end-plate irregularity. Conclusion. These data indicate that spinal changes are an uncommon but variable component of Schmid MCD and that this condition and "Japanese" SMD are identical collagen type X disorders. Furthermore, the fact that the specific mutation reported in the family with Japanese type SMD, resulting in the substitution of a glutamic acid residue for a glycine at codon 595 (G595 E), has also been reported in a patient with Schmid MCD strongly supports this conclusion.</div>
</front>
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<country name="Australie"><noRegion><name sortKey="Savarirayan, R" sort="Savarirayan, R" uniqKey="Savarirayan R" first="R." last="Savarirayan">R. Savarirayan</name>
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Schmid type metaphyseal chondrodysplasia : a spondylometaphyseal dysplasia identical to the "Japanese" type

Schmid type metaphyseal chondrodysplasia : a spondylometaphyseal dysplasia identical to the "Japanese" type

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri