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Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type.
Pediatr Radiol. 2000 Jul; 30(7):460-3.PR

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 platyspondyly, 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.

Authors+Show Affiliations

Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars-Sinai Medical Center, Los Angeles, California, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

10929364

Citation

Savarirayan, R, et al. "Schmid Type Metaphyseal Chondrodysplasia: a Spondylometaphyseal Dysplasia Identical to the "Japanese" Type." Pediatric Radiology, vol. 30, no. 7, 2000, pp. 460-3.
Savarirayan R, Cormier-Daire V, Lachman RS, et al. Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. Pediatr Radiol. 2000;30(7):460-3.
Savarirayan, R., Cormier-Daire, V., Lachman, R. S., & Rimoin, D. L. (2000). Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. Pediatric Radiology, 30(7), 460-3.
Savarirayan R, et al. Schmid Type Metaphyseal Chondrodysplasia: a Spondylometaphyseal Dysplasia Identical to the "Japanese" Type. Pediatr Radiol. 2000;30(7):460-3. PubMed PMID: 10929364.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the "Japanese" type. AU - Savarirayan,R, AU - Cormier-Daire,V, AU - Lachman,R S, AU - Rimoin,D L, PY - 2000/8/10/pubmed PY - 2001/2/28/medline PY - 2000/8/10/entrez SP - 460 EP - 3 JF - Pediatric radiology JO - Pediatr Radiol VL - 30 IS - 7 N2 - 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 platyspondyly, 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. SN - 0301-0449 UR - https://www.unboundmedicine.com/medline/citation/10929364/Schmid_type_metaphyseal_chondrodysplasia:_a_spondylometaphyseal_dysplasia_identical_to_the_"Japanese"_type_ L2 - https://dx.doi.org/10.1007/s002470000181 DB - PRIME DP - Unbound Medicine ER -