Literature DB >> 25743862

Infantile osteopetrosis associated with osteomyelitis.

Cintia de Vasconcellos Machado1, Maria Celina Barreiros Siquara da Rocha2, Paloma Dias da Silva Telles3.   

Abstract

Osteopetrosis is a rare inherited disorder characterised by the inability to reabsorb and remodel bone due to an osteoclast dysfunction. An increase in bone mass and density results in severe skeletal malformation and bone marrow failure, which may be fatal. The aim of this study was to report a case of infantile osteopetrosis in a 6-year-old boy, who primarily complained of dental problems. The patient developed an osteomyelitis after a primary tooth extraction. We also reviewed the literature about this genetic bone disease, since the management of dental problems of these patients can be a challenge to the dentist. The diagnosis, clinical and radiographic features and treatment of the case were discussed in this work. 2015 BMJ Publishing Group Ltd.

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Year:  2015        PMID: 25743862      PMCID: PMC4369041          DOI: 10.1136/bcr-2014-208085

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  27 in total

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Journal:  Am J Med Genet       Date:  2002-11-15

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Journal:  Otolaryngol Head Neck Surg       Date:  1986-07       Impact factor: 3.497

3.  Craniofacial abnormalities in osteopetrosis with precocious manifestations: report of a case with serial cephalometric roentgenograms.

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4.  Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws.

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Journal:  J Dent Child (Chic)       Date:  2012 May-Aug

5.  Transplantation of cord blood progenitor cells can promote bone resorption in autosomal recessive osteopetrosis.

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Journal:  Bone Marrow Transplant       Date:  1997-10       Impact factor: 5.483

6.  Hematopoietic stem cell-targeted neonatal gene therapy reverses lethally progressive osteopetrosis in oc/oc mice.

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Journal:  Blood       Date:  2007-03-01       Impact factor: 22.113

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Authors:  Gary E Wise; Hongzhi He; Dina L Gutierrez; Sherry Ring; Shaomian Yao
Journal:  Eur J Oral Sci       Date:  2011-10       Impact factor: 2.612

Review 8.  Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Authors:  Cristina Sobacchi; Ansgar Schulz; Fraser P Coxon; Anna Villa; Miep H Helfrich
Journal:  Nat Rev Endocrinol       Date:  2013-07-23       Impact factor: 43.330

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Journal:  BioDrugs       Date:  1997-01       Impact factor: 5.807

10.  Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course.

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Journal:  Pediatrics       Date:  1994-02       Impact factor: 7.124

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  2 in total

1.  Button Sequestrum Sign Due to Osteomyelitis of the Mandible Secondary to Malignant Infantile Osteopetrosis.

Authors:  Evangelia F Christodoulou; Georgios Nistikoulis; Savas P Deftereos
Journal:  Maedica (Bucur)       Date:  2021-09

Review 2.  Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Authors:  Pongtawat Lertwilaiwittaya; Bhoom Suktitipat; Phongphak Khongthon; Warut Pongsapich; Chanin Limwongse; Manop Pithukpakorn
Journal:  Mol Genet Genomic Med       Date:  2021-05-30       Impact factor: 2.183

  2 in total

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