Literature DB >> 6606709

Osteoglophonic dwarfism in two generations.

R I Kelley, P F Borns, D Nichols, E H Zackai.   

Abstract

A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.

Entities:  

Mesh：

Year:  1983        PMID： 6606709      PMCID： PMC1049176          DOI： 10.1136/jmg.20.6.436

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  Craniofacial dysotosis with fibrous metaphyseal deffects.

Authors:  T E Keats; T H Smith; D E Sweet
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1975-06

2.  Genetic perspectives on craniosynostosis and syndromes with craniosynostosis.

Authors:  M M Cohen
Journal:  J Neurosurg       Date:  1977-12       Impact factor: 5.115

3.  The variable manifestations of multiple enchondromatosis.

Authors:  F Mainzer; H Minagi; H L Steinbach
Journal:  Radiology       Date:  1971-05       Impact factor: 11.105

4.  Osteoglophonic dwarfism.

Authors:  P Beighton; B J Cremin; K Kozlowski
Journal:  Pediatr Radiol       Date:  1980-09
  4 in total
  5 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.  Osteoglophonic dysplasia.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

3.  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

4.  Osteoglophonic dysplasia: a new case.

Authors:  H Santos; P Campos; R Alves; A Torrado
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

5.  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
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.