Literature DB >> 26225150

Skeletal Dysplasia Presenting as a Neuromuscular Disorder - Report of a Family with Camurati-Engelmann Syndrome.

Vasilica Plaiasu1, Amalia Costin1.   

Abstract

We report the case of a 28-year-old female with progressive diaphyseal dysplasia, who presented with history of a similar neuromuscular condition. Clinical, radiological and molecular data confirmed Camurati-Engelmann Disease (CED). This is the first Romanian family who was diagnosed with CED.

Entities:  

Keywords:  Camurati-Engelmann disease; TGFB1 gene mutation; skeletal dysplasia

Year:  2015        PMID： 26225150      PMCID： PMC4496766     

Source DB:  PubMed          Journal:  Maedica (Buchar)        ISSN： 1841-9038


  15 in total

Review 1.  Hearing impairment in Engelmann disease.

Authors:  K Higashi; C Matsuki
Journal:  Am J Otol       Date:  1996-01

2.  Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.

Authors:  M Ghadami; Y Makita; K Yoshida; G Nishimura; Y Fukushima; K Wakui; S Ikegawa; K Yamada; S Kondo; N Niikawa; H a Tomita
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones.

Authors:  Gen Nishimura; Hitoshi Nishimura; Yoko Tanaka; Yoshio Makita; Shiro Ikegawa; Mohsen Ghadami; Akira Kinoshita; Norio Niikawa
Journal:  Am J Med Genet       Date:  2002-01-01

4.  Elimination of pain and improvement of exercise capacity in Camurati-Engelmann disease with losartan.

Authors:  Ahila Ayyavoo; José G B Derraik; Wayne S Cutfield; Paul L Hofman
Journal:  J Clin Endocrinol Metab       Date:  2014-08-20       Impact factor: 5.958

5.  Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

Authors:  A Kinoshita; T Saito; H Tomita; Y Makita; K Yoshida; M Ghadami; K Yamada; S Kondo; S Ikegawa; G Nishimura; Y Fukushima; T Nakagomi; H Saito; T Sugimoto; M Kamegaya; K Hisa; J C Murray; N Taniguchi; N Niikawa; K Yoshiura
Journal:  Nat Genet       Date:  2000-09       Impact factor: 38.330

Review 6.  Skull base manifestations of Camurati-Engelmann disease.

Authors:  Matthew L Carlson; Charles W Beatty; Brian A Neff; Michael J Link; Colin L W Driscoll
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2010-06

Review 7.  Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis.

Authors:  Lauren L Ihde; Deborah M Forrester; Christopher J Gottsegen; Sulabha Masih; Dakshesh B Patel; Linda A Vachon; Eric A White; George R Matcuk
Journal:  Radiographics       Date:  2011 Nov-Dec       Impact factor: 5.333

8.  Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.

Authors:  B Campos-Xavier; J M Saraiva; R Savarirayan; A Verloes; J Feingold; L Faivre; A Munnich; M Le Merrer; V Cormier-Daire
Journal:  Hum Genet       Date:  2001-11-09       Impact factor: 4.132

9.  Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.

Authors:  Stephanie E Wallace; Ralph S Lachman; Pertchoui B Mekikian; Kathy K Bui; William R Wilcox
Journal:  Am J Med Genet A       Date:  2004-09-01       Impact factor: 2.802

10.  Camurati-Engelmann disease. Effects of corticosteroids.

Authors:  O Heymans; M Gebhart; J Alexiou; Y Sokolow
Journal:  Acta Clin Belg       Date:  1998-06       Impact factor: 1.264
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  1 in total

1.  Orthopedic Manifestations of Type I Camurati-Engelmann Disease.

Authors:  Alisher J Yuldashev; Chang Ho Shin; Yong Sung Kim; Woo Young Jang; Moon Seok Park; Jong Hee Chae; Won Joon Yoo; In Ho Choi; Ok Hwa Kim; Tae-Joon Cho
Journal:  Clin Orthop Surg       Date:  2017-02-13
  1 in total

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