Metaphyseal Dysplasia, Epiphyseal Dysplasia, Diaphyseal Dysplasia, and Related Conditions

Jackson, W. P. U.; Albright, Fuller; Drewry, Garth; Hanelin, Joseph; Rubin, Mitchell I.

doi:10.1001/archinte.1954.00250060005001

Cited by 70 publications

(22 citation statements)

References 7 publications

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“…In 1954, Jackson et al [1] first described CMD as a genetic disorder diagnosed from clinical and radiographic findings. There are two patterns of inheritance: autosomal dominant caused by a mutation in the ANKH gene and, less commonly, autosomal recessive, carried by a candidate locus on chromosome band 6q21-22 that is associated with a more severe form of the condition [2].…”

Section: Discussionmentioning

confidence: 99%

“…This gene encodes for a pyrophosphate transporter which channels intracellular pyrophosphate into the extracellular matrix, which is usually a potent inhibitor of mineralisation [1,6]. Findings in CMD are a high deposition of mineralised bone and a failure to degrade bone preventing normal bone remodelling [5].…”

Section: Discussionmentioning

confidence: 99%

“…Findings in CMD are a high deposition of mineralised bone and a failure to degrade bone preventing normal bone remodelling [5]. Microscopic findings of bone demonstrate excessive subperiosteal bone formation, with high numbers of osteoblasts, few osteoclasts or osteocytes suggesting a failure of bone resorption [1,7]. Nasal obstruction has been previously reported in three cases of children ranging in age from 4 days to 2 months old presenting with inferior turbinate hypertrophy, choanal stenosis or a combination; two underwent surgery and one was treated conservatively [4,8,9], the details of which were not mentioned.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature

Twigg

Carr

Peres

et al. 2015

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature

Twigg

Carr

Peres

et al. 2015

International Journal of Pediatric Otorhinolaryngology

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“…(e) More similarities exist perhaps between osteodysplasty and familial metaphyseal dystrophy (Pyle, 1931) and the syndrome described by Jackson, Albright, Drewry, Hanelin, and Rubin (1954).…”

Section: Discussionmentioning

confidence: 99%

Osteodysplasty (Melnick and Needles syndrome). Report of a case.

Coste¹,

Maroteaux²,

Chouraki³

1968

Annals of the Rheumatic Diseases

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“…Craniometaphyseal dysplasia (CMD), a rare genetic bone disorder, is characterized by progressive thickening of craniofacial bones and flared metaphyses of long bones [1]. CMD patients frequently suffer from hearing loss, visual impairment, facial paralysis and severe headaches due to consequences from neuronal compression as a result of hyperostosis of craniofacial bones [2, 3].…”

Section: Introductionmentioning

confidence: 99%

Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia

Liu

Dutra

Reichenberger

et al. 2016

J Negat Results BioMed

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BackgroundMutations in the human progressive ankylosis gene (ANKH; Mus musculus ortholog Ank) have been identified as cause for craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and flared metaphyses of long bones. We previously reported a knock-in (KI) mouse model (Ank KI/KI) for CMD and showed transiently lower serum phosphate (Pi) as well as significantly higher mRNA levels of fibroblast growth factor 23 (Fgf23) in Ank KI/KI mice. FGF23 is secreted by bone and acts in kidney to promote Pi wasting which leads to lower serum Pi levels. Here, we examined whether increasing the Pi level can partially rescue the CMD-like skeletal phenotype by feeding Ank +/+ and Ank KI/KI mice with high Pi (1.7 %) diet from birth for 6 weeks. We studied the Pi metabolism in Ank KI/KI mice and CMD patients by examining the Pi regulators FGF23 and parathyroid hormone (PTH).ResultsHigh Pi diet did not correct CMD-like features, including massive jawbone, increased endosteal and periosteal perimeters and extensive trabeculation of femurs in Ank KI/KI mice shown by computed microtomography (μCT). This unexpected negative result is, however, consistent with normal serum/plasma levels of the intact/active form of FGF23 and PTH in Ank KI/KI mice and in CMD patients. In addition, FGF23 protein expression was unexpectedly normal in Ank KI/KI femoral cortical bone as shown by immunohistochemistry despite increased mRNA levels for Fgf23. Renal expression of genes involved in the FGF23 bone-kidney axis, including mFgfr1, mKlotho, mNpt2a, mCyp24a1 and m1αOHase, were comparable between Ank +/+ and Ank KI/KI mice as shown by quantitative real-time PCR. Different from normal FGF23 and PTH, serum 25-hydroxyvitamin D was significantly lower in Ank KI/KI mice and vitamin D insufficiency was found in four out of seven CMD patients.ConclusionsOur data suggests that FGF23 signaling and Pi metabolism are not significantly affected in CMD and transiently low Pi level is not a major contributor to CMD.

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Metaphyseal Dysplasia, Epiphyseal Dysplasia, Diaphyseal Dysplasia, and Related Conditions

Cited by 70 publications

References 7 publications

Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature

Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature

Osteodysplasty (Melnick and Needles syndrome). Report of a case.

Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia

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