Osteochondrodysplasias, dysostoses, disorders of calcium metabolism, congenital malformations with skeletal involvement mapped on human chromosomes

Frézal, J; Merrer, Martine Le; Chauvet, Marie-Liesse

doi:10.1007/s002470050153

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Reviewing the Cases Reported In The Literature As Having Mchd1

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“…3c), only moderate acetabular involvement ( Fig. 3d) and 19 This may explain the hyperparathyroidism-like findings in the first few months of life. We believe that it is very important, at this time in our understanding of this disorder, that cases of MChD Jansen and its variants, that have had long periods of observation and proper radiographic documentation, be reported, even if they are isolated case reports.…”

Section: Reviewing the Cases Reported In The Literature As Having Mchdmentioning

confidence: 86%

Metaphyseal chondrodysplasia, type Jansen

et al. 1999

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Section: Reviewing the Cases Reported In The Literature As Having Mchdmentioning

confidence: 86%

Metaphyseal chondrodysplasia, type Jansen

et al. 1999

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Skeletal Dysplasias

Shapiro¹

2015

Pediatric Orthopedic Deformities, Volume 1

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Jansen type of spondylometaphyseal dysplasia

et al. 2000

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Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen.

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Osteochondrodysplasias, dysostoses, disorders of calcium metabolism, congenital malformations with skeletal involvement mapped on human chromosomes

Cited by 5 publications

References 231 publications

Metaphyseal chondrodysplasia, type Jansen

Metaphyseal chondrodysplasia, type Jansen

Skeletal Dysplasias

Jansen type of spondylometaphyseal dysplasia

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