Metaphyseal chondrodysplasia, type Jansen

Kozlowski, K.; Campbell, John B.; Azouz, M.; Sprague, P.

doi:10.1046/j.1440-1673.1999.00729.x

Cited by 11 publications

(6 citation statements)

References 11 publications

(12 reference statements)

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“…They increase with growth of the child and stabilize with epiphyseal fusion. The epiphyses (bone age) and the spine are grossly normal 1,2,6–17 . Taybi and Lachman 2 highlight significant clinical variability of JMD.…”

Section: Discussionmentioning

confidence: 99%

Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

Kaissi¹,

Ghachem²,

Nessib³

et al. 2005

Australasian Radiology

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We report a boy with a unique, "new" form of spondyloepimetaphyseal dysplasia. The conspicuous features of the spinal changes were the delay in ossification of the cervical spine and posterior elements of the thoraco-lumbar spine. The vertebral bodies were of abnormal shape but of normal size and well ossified. The hallmark of epiphyseal changes was markedly delayed ossification (bone age). The severely disturbed metaphyseal ossification was similar to Jansen metaphyseal dysplasia. This pattern of changes has not yet been described in spondyloepimetaphyseal dysplasia.

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Section: Discussionmentioning

confidence: 99%

Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

Kaissi¹,

Ghachem²,

Nessib³

et al. 2005

Australasian Radiology

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“…These varying effects of PTH/PTHrP activity are seen in two skeletal dysplasias that result from mutations in PTH1R ; Jansen Metaphyseal Chondrodysplasia (JMC) ( Cohen, 2002 ), an autosomal dominant disease that results from constitutive action of PTH1R ( Schipani et al, 1995 ) and Blomstrand Chondrodysplasia (BOCD) ( Loshkajian et al, 1997 ), an autosomal recessive disorder caused by loss-of-function mutations in PTH1R ( Jobert et al, 1998 ). JMC shows delayed chondrocyte differentiation and bone formation, and conversely, BOCD patients show advanced bone maturation ( Jobert et al, 1998 ; Kozlowski et al, 1999 ).…”

Section: Introductionmentioning

confidence: 99%

Skeletal diseases caused by mutations in PTH1R show aberrant differentiation of skeletal progenitors due to dysregulation of DEPTOR

Csukasi

Bosakova

Bárta

et al. 2023

Front. Cell Dev. Biol.

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Alterations in the balance between skeletogenesis and adipogenesis is a pathogenic feature in multiple skeletal disorders. Clinically, enhanced bone marrow adiposity in bones impairs mobility and increases fracture risk, reducing the quality of life of patients. The molecular mechanism that underlies the balance between skeletogenesis and adipogenesis is not completely understood but alterations in skeletal progenitor cells’ differentiation pathway plays a key role. We recently demonstrated that parathyroid hormone (PTH)/PTH-related peptide (PTHrP) control the levels of DEPTOR, an inhibitor of the mechanistic target of rapamycin (mTOR), and that DEPTOR levels are altered in different skeletal diseases. Here, we show that mutations in the PTH receptor-1 (PTH1R) alter the differentiation of skeletal progenitors in two different skeletal genetic disorders and lead to accumulation of fat or cartilage in bones. Mechanistically, DEPTOR controls the subcellular localization of TAZ (transcriptional co-activator with a PDZ-binding domain), a transcriptional regulator that governs skeletal stem cells differentiation into either bone and fat. We show that DEPTOR regulation of TAZ localization is achieved through the control of Dishevelled2 (DVL2) phosphorylation. Depending on nutrient availability, DEPTOR directly interacts with PTH1R to regulate PTH/PTHrP signaling or it forms a complex with TAZ, to prevent its translocation to the nucleus and therefore inhibit its transcriptional activity. Our data point DEPTOR as a key molecule in skeletal progenitor differentiation; its dysregulation under pathologic conditions results in aberrant bone/fat balance.

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“…6 In infancy, osteopenia, subperiosteal erosions, and hypercalcemia may cause confusion with hyperparathyroidism. 10 Patients exhibit marked growth plate abnormalities, short stature and bowing of long bones, micrognathia, hypertelorism, and premature closure of cranial sutures. 9 Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive metaphyseal chondrodysplasia caused by mutations of the untranslated RMRP gene.…”

Section: Introductionmentioning

confidence: 99%

Schmid Type Metaphyseal Chondrodysplasia in a Large Single Genetic Lineage

Michaeli¹,

Rajendra²,

Kim³

et al. 2021

J Human Clin Gen

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Several subtypes of metaphyseal chondrodysplasia exist, of which the Schmid type is the most common. Characteristics include short limbed dwarfism, coxa vara, genu vara, and waddling gait. Skull, spine, and upper extremity involvement is minimal and often nonexistent. The primary defect involves a mutation affecting the metaphyseal portion of the growth plate, while the epiphysis is normal. A large single lineage family with metaphyseal chondrodysplasia, Schmid type (MCDS) was investigated. A genetic pedigree of 135 members of this family showed autosomal dominant inheritance between all 42 affected members. The large sample size allowed for the characterization of a broad range of features present in cases of MCDS. The majority of affected patients exhibited coxa vara with an average neck/shaft angle of 105 degrees. Despite coxa vara, premature osteoarthritis of the hip is not a feature of MCDS. Genu varum is the most prevalent knee disorder in this group, but greater than 30% of patients may exhibit genu valgum. This manuscript highlights MCDS background information, differential diagnoses, treatment options, and prognosis to aid in clinical decision-making.

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Metaphyseal chondrodysplasia, type Jansen

Abstract: The Jansen type of metaphyseal dysplasia is a rare disorder with significant clinical and radiographic variability. Two cases of classical Jansen disease and one with some distinctive features suggestive of the Jansen variant are reported.

Cited by 11 publications

References 11 publications

Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

Skeletal diseases caused by mutations in PTH1R show aberrant differentiation of skeletal progenitors due to dysregulation of DEPTOR

Schmid Type Metaphyseal Chondrodysplasia in a Large Single Genetic Lineage

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