Literature DB >> 23595522

Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder.

Alexander Jurko1, Jana Krsiakova, Milan Minarik, Ingrid Tonhajzerova.   

Abstract

Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. In our case report, the physical examination revealed typical physical findings to determine the physical diagnosis of BHS in contrast to negative finding on DNA analysis. From clinical point-of-view, it is important to include a complex clinical approach in making the diagnosis.

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Year:  2013        PMID: 23595522     DOI: 10.1007/s00508-013-0358-7

Source DB:  PubMed          Journal:  Wien Klin Wochenschr        ISSN: 0043-5325            Impact factor:   1.704


  11 in total

Review 1.  Beals-Hecht syndrome.

Authors:  Jennifer L Jones; Joshua E Lane; James J Logan; Maria E Vanegas
Journal:  South Med J       Date:  2002-07       Impact factor: 0.954

2.  Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.

Authors:  Prateek A Gupta; Elizabeth A Putnam; Sonya G Carmical; Ilkka Kaitila; Beat Steinmann; Anne Child; Cesare Danesino; Kay Metcalfe; Susan A Berry; Emily Chen; Catherine Vincent Delorme; Meow-Keong Thong; Lesley C Adès; Dianna M Milewicz
Journal:  Hum Mutat       Date:  2002-01       Impact factor: 4.878

3.  Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly.

Authors:  N Kölble; J Wisser; D Babcock; C Maslen; R Huch; B Steinmann
Journal:  Ultrasound Obstet Gynecol       Date:  2002-10       Impact factor: 7.299

4.  Congenital contractural arachnodactyly (Beals syndrome).

Authors:  P H Su; J W Hou; W L Hwu; M H Wu; J K Wang; T R Wang
Journal:  Acta Paediatr Taiwan       Date:  2000 Mar-Apr

5.  Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome).

Authors:  Tae Matsumoto; Atsushi Watanabe; Makoto Migita; Yoshihiro Gocho; Jun Hayakawa; Shun-ichi Ogawa; Takashi Shimada; Yoshitaka Fukunaga
Journal:  J Nippon Med Sch       Date:  2006-10       Impact factor: 0.920

6.  [Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome].

Authors:  P Fehlow
Journal:  Klin Monbl Augenheilkd       Date:  2005-05       Impact factor: 0.700

7.  Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

Authors:  E S Park; E A Putnam; D Chitayat; A Child; D M Milewicz
Journal:  Am J Med Genet       Date:  1998-07-24

Review 8.  Congenital contractural arachnodactyly (Beals syndrome).

Authors:  D Viljoen
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318

9.  Beals-Hecht syndrome and choroidal neovascularization.

Authors:  Roberto Gallego-Pinazo; Ruth López-Lizcano; José María Millán; J Fernando Arevalo; J Luis Mullor; Manuel Díaz-Llopis
Journal:  Clin Ophthalmol       Date:  2010-08-09

Review 10.  Congenital contractural arachnodactyly (Beals syndrome).

Authors:  Ergül Tunçbilek; Yasemin Alanay
Journal:  Orphanet J Rare Dis       Date:  2006-06-01       Impact factor: 4.123

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  4 in total

1.  The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy.

Authors:  Linjun Chen; Zhenyu Diao; Zhipeng Xu; Jianjun Zhou; Wanjun Wang; Jie Li; Guijun Yan; Haixiang Sun
Journal:  J Assist Reprod Genet       Date:  2016-07-09       Impact factor: 3.412

2.  Neonatal Marfan syndrome: a successful early multidisciplinary approach.

Authors:  Marta Amado; Maria Angelina Calado; Rui Ferreira; Teresa Lourenço
Journal:  BMJ Case Rep       Date:  2014-06-13

3.  Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.

Authors:  Guoling You; Bailing Zu; Bo Wang; Zhigang Wang; Yunlan Xu; Qihua Fu
Journal:  Int J Mol Sci       Date:  2017-04-05       Impact factor: 5.923

4.  Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.

Authors:  Hao Deng; Qian Lu; Hongbo Xu; Xiong Deng; Lamei Yuan; Zhijian Yang; Yi Guo; Qiongfen Lin; Jingjing Xiao; Liping Guan; Zhi Song
Journal:  PLoS One       Date:  2016-05-19       Impact factor: 3.240

  4 in total

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