Literature DB >> 19449001

A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome.

Manjiri M Didolkar1, Emily N Vinson, Ana M Gaca.   

Abstract

There are few reports of the typical radiographic findings in the hands and feet of patients with Muenke syndrome. We present a case report of a young girl with Muenke syndrome, whose diagnosis was made following the observation of coalitions and coned epiphyses on hand radiographs.

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Year:  2009        PMID： 19449001     DOI： 10.1007/s00256-009-0716-8

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


  18 in total

Review 1.  Radiologic evaluation of chronic foot pain.

Authors:  Mo Ahn Joong; Georges Y El-Khoury
Journal:  Am Fam Physician       Date:  2007-10-01       Impact factor: 3.292

2.  A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Authors:  M Muenke; K W Gripp; D M McDonald-McGinn; K Gaudenz; L A Whitaker; S P Bartlett; R I Markowitz; N H Robin; N Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; G Hollway; L C Adès; E A Haan; J C Mulley; M M Cohen; G A Bellus; C A Francomano; D M Moloney; S A Wall; A O Wilkie
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

3.  Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

Authors:  K W Gripp; D M McDonald-McGinn; K Gaudenz; L A Whitaker; S P Bartlett; P M Glat; L B Cassileth; R Mayro; E H Zackai; M Muenke
Journal:  J Pediatr       Date:  1998-04       Impact factor: 4.406

4.  Congenital tarsal coalition: multimodality evaluation with emphasis on CT and MR imaging.

Authors:  J S Newman; A H Newberg
Journal:  Radiographics       Date:  2000 Mar-Apr       Impact factor: 5.333

5.  Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Authors:  G A Bellus; K Gaudenz; E H Zackai; L A Clarke; J Szabo; C A Francomano; M Muenke
Journal:  Nat Genet       Date:  1996-10       Impact factor: 38.330

6.  Radiographic diagnosis of tarsal coalition.

Authors:  Julia R Crim; Kristina M Kjeldsberg
Journal:  AJR Am J Roentgenol       Date:  2004-02       Impact factor: 3.959

7.  Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

Authors:  Emily S Doherty; Felicitas Lacbawan; Donald W Hadley; Carmen Brewer; Christopher Zalewski; H Jeff Kim; Beth Solomon; Kenneth Rosenbaum; Demetrio L Domingo; Thomas C Hart; Brian P Brooks; Ladonna Immken; R Brian Lowry; Virginia Kimonis; Alan L Shanske; Fernanda Sarquis Jehee; Maria Rita Passos Bueno; Carol Knightly; Donna McDonald-McGinn; Elaine H Zackai; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2007-12-15       Impact factor: 2.802

8.  Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

Authors:  E Lajeunie; V El Ghouzzi; M Le Merrer; A Munnich; J Bonaventure; D Renier
Journal:  J Med Genet       Date:  1999-01       Impact factor: 6.318

9.  Incomplete carpal coalition.

Authors:  C S Resnik; J D Grizzard; B P Simmons; I Yaghmai
Journal:  AJR Am J Roentgenol       Date:  1986-08       Impact factor: 3.959

10.  Muenke syndrome.

Authors:  G Sabatino; F Di Rocco; G Zampino; G Tamburrini; M Caldarelli; C Di Rocco
Journal:  Childs Nerv Syst       Date:  2004-02-10       Impact factor: 1.475
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  1 in total

Review 1.  Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.

Authors:  Nneamaka B Agochukwu; Benjamin D Solomon; Laurel J Benson; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2013-02-01       Impact factor: 2.802
  1 in total

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