Literature DB >> 17189853

Gnathodiaphyseal dysplasia.

Jaspal Ahluwalia1, Justin Q Ly, Emily Norman, Richard F Costello, Douglas P Beall.   

Abstract

Gnathodiaphyseal dysplasia (GDD) is an orthopedic condition involving cemento-osseous lesions of jaw bones, sclerosis, bowing of tubular bones, and overall bone fragility. This is a case report of GDD in which an 18-year-old female presented with a several-year history of bony abnormalities of the jaw and long bones. Radiographs demonstrated endosteal thickening, bowing of long bones, and abnormalities of the skull. These findings, along with the patient's known maxillary region cementoma, led to a diagnosis of GDD.

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Year:  2007        PMID: 17189853     DOI: 10.1016/j.clinimag.2006.07.003

Source DB:  PubMed          Journal:  Clin Imaging        ISSN: 0899-7071            Impact factor:   1.605


  8 in total

1.  Gnathodiaphyseal dysplasia.

Authors:  T E Herman; M J Siegel; K Sargar
Journal:  J Perinatol       Date:  2014-05       Impact factor: 2.521

Review 2.  Fibro-osseous lesions of the craniofacial skeleton: an update.

Authors:  Samir K El-Mofty
Journal:  Head Neck Pathol       Date:  2014-11-20

3.  Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Authors:  Ghada A Otaify; Michael P Whyte; Gary S Gottesman; William H McAlister; J Eric Gordon; Abby Hollander; Marisa V Andrews; Samir K El-Mofty; Wei-Shen Chen; Deborah V Veis; Marina Stolina; Albert S Woo; Panagiotis Katsonis; Olivier Lichtarge; Fan Zhang; Marwan Shinawi
Journal:  Bone       Date:  2017-11-21       Impact factor: 4.398

4.  Sex differences in the involvement of skeletal and cardiac muscles in myopathic Ano5-/- mice.

Authors:  Steven Foltz; Fang Wu; Nasab Ghazal; Jennifer Q Kwong; H Criss Hartzell; Hyojung J Choo
Journal:  Am J Physiol Cell Physiol       Date:  2022-01-12       Impact factor: 4.249

5.  A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

Authors:  Caterina Marconi; Paolo Brunamonti Binello; Giovanni Badiali; Emanuela Caci; Roberto Cusano; Joseph Garibaldi; Tommaso Pippucci; Alberto Merlini; Claudio Marchetti; Kerry J Rhoden; Luis J V Galietta; Faustina Lalatta; Paolo Balbi; Marco Seri
Journal:  Eur J Hum Genet       Date:  2012-10-10       Impact factor: 4.246

6.  Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.

Authors:  Hannah A Duong; Karen T Le; Albert L Soulema; Ronald H Yueh; Maren T Scheuner; Michael F Holick; Russell Christensen; Tracey L Tajima; Angela M Leung; Sanjay M Mallya
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol       Date:  2016-01-28

7.  Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.

Authors:  Lingling Jin; Yi Liu; Fanyue Sun; Michael T Collins; Keith Blackwell; Albert S Woo; Ernst J Reichenberger; Ying Hu
Journal:  Sci Rep       Date:  2017-02-08       Impact factor: 4.379

8.  Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.

Authors:  Vahid Reza Yassaee; Arash Khojasteh; Farzad Hashemi-Gorji; Hossein Sadeghi; Hannaneh Safiaghdam; Reza Mirfakhraie
Journal:  Mol Genet Genomic Med       Date:  2022-06-27       Impact factor: 2.473

  8 in total

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