Literature DB >> 8995175

Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata.

E M Azouz1, K Kozlowski.   

Abstract

The appearance and gradual enlargement of fibrous cortical defects and multiple nonossifying fibromata are documented in this report of a 2-year-old boy with a very rare skeletal dysplasia known as osteoglophonic dysplasia, characterized by multiple and recurrent craniosynostoses, platyspondyly, short tubular bones, and epiphyseal dysplasia.

Entities:  

Mesh：

Year:  1997        PMID： 8995175     DOI： 10.1007/s002470050069

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  3 in total

1.  Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.

Authors:  Shwetha Kuthiroly; Dhanya Yesodharan; Aneesh Ghosh; Kenneth E White; Sheela Nampoothiri
Journal:  J Pediatr Genet       Date:  2017-05-05

2.  FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation.

Authors:  Matthew R Karolak; Xiangli Yang; Florent Elefteriou
Journal:  Hum Mol Genet       Date:  2015-01-23       Impact factor: 6.150

3.  Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up.

Authors:  Yuchun Zou; Hanyu Lin; Weijia Chen; Lin Chang; Senxin Cai; You-Guang Lu; Linyu Xu
Journal:  BMC Oral Health       Date:  2022-02-11       Impact factor: 2.757
  3 in total

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