Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta

American Journal of Medical Genetics ◽

10.1002/ajmg.1320390211 ◽

1991 ◽

Vol 39 (2) ◽

pp. 170-172 ◽

Cited By ~ 28

Author(s):

Jack Goldblatt ◽

Paul Carman ◽

Paul Sprague

Keyword(s):

Skeletal Dysplasia ◽

Joint Laxity ◽

Dentinogenesis Imperfecta

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“Pyknodysostosis” A Case Report

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v29i2.2049 ◽

2009 ◽

Vol 29 (2) ◽

pp. 101-103

Author(s):

Karna K Sapkota ◽

Veena Gupta ◽

CP Shrivastav

Keyword(s):

Skeletal Dysplasia ◽

Cathepsin K ◽

Multiple Fractures ◽

Genetic Trait ◽

Gene Encoding ◽

Hilly Region ◽

Lysosomal Cysteine Protease ◽

Blue Sclera ◽

Characteristic Features ◽

Hands And Feet

Pyknodysostosis is a rare disorder of skeletal dysplasia that is inherited as an autosomal recessive genetic trait. Several mutations have been found in the gene encoding cathepsin K - a lysosomal cysteine protease and the gene situated at 1q21. A mutation in this gene leads to loss of enzyme for osteoclastic activities responsible for the metabolism of skeletal system leading to defective bone remodeling and resorption and various other skeletal abnormalities. Here we report a case of 12 year old female from mid-western hilly region of Nepal with Pyknodysostosis having fracture femur and other skeletal dysplasia. The characteristic features of this syndrome are dwarfism, large open fontenelles, wide cranial sutures, small retrograde mandible, multiple fractures and osteosclerosis, dental abnormalities, short and broad hands and feet, blue sclera, multiple fractures and nail may be dysplastic. Key words: Pyknodysostosis, dysplasia, short stature doi: 10.3126/jnps.v29i2.2049 J. Nepal Paediatr. Soc. Vol 29, No. 2, pp.101-103

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Multiple Teeth Fractures in Dentinogenesis Imperfecta: A Case Report

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.38.4.q523456j733642r2 ◽

2014 ◽

Vol 38 (4) ◽

pp. 362-365 ◽

Cited By ~ 1

Author(s):

B Min ◽

J S Song ◽

J H Lee ◽

B J Choi ◽

K M Kim ◽

...

Keyword(s):

Vickers Hardness ◽

Fracture Resistance ◽

Surface Hardness ◽

Hardness Test ◽

Dentinogenesis Imperfecta ◽

Enamel Microstructure ◽

Multiple Fractures ◽

Hereditary Defect ◽

Vickers Hardness Test ◽

Scanning Electron

Dentinogenesis imperfecta (DGI) is a hereditary defect consisting of opalescent teeth composed of irregularly formed and hypomineralized dentin. This paper presents the multiple fractures of DGI-affected teeth and suggests the reason of low fracture resistance by observing the dentin microstructures directly using scanning electron microscope (SEM) and by measuring its surface hardness using the Vickers hardness test. .SEM revealed that while the enamel microstructure was similar in the DGI-affected and normal teeth, the microstructure of the DGI-affected dentin was poorly woven and more loosely packed than that of the normal dentin. The Vickers hardness of the DGI-affected dentin was 4.89 times softer than the normal dentin. The low fracture resistance of DGI-affected teeth can be attributed to the poorly woven microstructure of their dentin, which leads to a reduction in hardness.

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Calvarial Doughnut Lesions with Osteoporosis, Multiple Fractures, Dentinogenesis Imperfecta and Tumorous Changes in the Jaws. (Report of a Case)

Australasian Radiology ◽

10.1111/j.1440-1673.1984.tb02511.x ◽

1984 ◽

Vol 28 (3) ◽

pp. 226-231 ◽

Cited By ~ 17

Author(s):

N. COLAVITA ◽

K. KOZLOWSKI ◽

G. LA VECCHIA ◽

A. FILENI ◽

R. RICCI

Keyword(s):

Dentinogenesis Imperfecta ◽

Multiple Fractures

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[18F]Fluoride PET Indicates Reduced Bone Formation in Severe Glucocorticoid-induced Osteoporosis

Nuklearmedizin ◽

10.1055/s-0038-1629797 ◽

1998 ◽

Vol 37 (02) ◽

pp. 76-79 ◽

Cited By ~ 8

Author(s):

T. D. Kirchhoff ◽

W. Burchert ◽

J. v. d. Hoff ◽

H. Zeidler ◽

H. Hundeshagen ◽

...

Keyword(s):

Bone Formation ◽

Multiple Organ ◽

High Dose ◽

Multiple Fractures ◽

Glucocorticoid Treatment ◽

Organ Manifestations ◽

Diagnostic Benefit ◽

Sharp Syndrome ◽

18F Fluoride

SummaryA 61-year-old female patient presenting with mixed connective tissue disease (Sharp syndrome), underwent a long-term high dose glucocorticoid treatment because of multiple organ manifestations. Under steroid therapy she developed severe osteoporosis resulting in multiple fractures. A dynamic [18F]fluoride PET study in this patient revealed reduced fluoride influx in non-fractured vertebrae. This finding corresponds to pathogenetic concepts which propose an inhibition of bone formation as major cause of glucocorticoid-induced osteoporosis. In the light of the presented case it seems to be promising to evaluate the diagnostic benefit of [18F]fluoride PET in osteoporosis.

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