Literature DB >> 3723551

Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

J Vanĕk, J Janda, V Amblerová, F Losan.   

Abstract

Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type of myopathic arthrogryposis.

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Year:  1986        PMID： 3723551      PMCID： PMC1049633          DOI： 10.1136/jmg.23.3.231

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


  8 in total

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Authors:  H Grasshoff; H St Braun; M Sakreida
Journal:  Beitr Orthop Traumatol       Date:  1978-05

2.  The whistling face syndrome--cranio-carpo-tarsal dysplasia. Report of a case and a survey of the literature.

Authors:  P MacLeod; H Patriquin
Journal:  Clin Pediatr (Phila)       Date:  1974-02       Impact factor: 1.168

3.  Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations.

Authors:  S Weinstein; R J Gorlin
Journal:  Am J Dis Child       Date:  1969-04

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Authors:  R N Sharma; S N Tandon
Journal:  Br Med J       Date:  1970-10-03

5.  Autosomal recessive type of whistling face syndrome in twins.

Authors:  B G Kousseff; P McConnachie; T A Hadro
Journal:  Pediatrics       Date:  1982-03       Impact factor: 7.124

6.  Freeman-Sheldon ("whistling face") syndrome.

Authors:  L A Rinsky; E E Bleck
Journal:  J Bone Joint Surg Am       Date:  1976-01       Impact factor: 5.284

7.  Electromyography of oral-facial musculature in craniocarpaltarsal dysplasia (Freeman-Sheldon syndrome).

Authors:  J J Sauk; J R Delaney; C Reaume; R Brandjord; C J Witkop
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

8.  A family with whistling-face-syndrome.

Authors:  A Wettstein; G Buchinger; A Braun; U B von Bazan
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
  8 in total
  5 in total

1.  Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

Authors:  Sandy S Sung; Anna-Marie E Brassington; Kathryn Grannatt; Ann Rutherford; Frank G Whitby; Patrycja A Krakowiak; Lynn B Jorde; John C Carey; Mike Bamshad
Journal:  Am J Hum Genet       Date:  2003-03       Impact factor: 11.025

2.  A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

Authors:  M Bamshad; W S Watkins; R K Zenger; J F Bohnsack; J C Carey; B Otterud; P A Krakowiak; M Robertson; L B Jorde
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

3.  Surgical management of windblown hand: results and literature review.

Authors:  K G Ashok Sunil Gavaskar; Naveen Chowdary
Journal:  J Child Orthop       Date:  2009-02-20       Impact factor: 1.548

4.  Severe skew foot deformity in a patient with freeman-sheldon syndrome.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  J Clin Med Res       Date:  2011-09-26

5.  Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.

Authors:  Xuefu Li; Bomeng Zhong; Weitian Han; Ning Zhao; Wei Liu; Yu Sui; Yawen Wang; Yongping Lu; Hong Wang; Jianxin Li; Miao Jiang
Journal:  PLoS One       Date:  2015-02-13       Impact factor: 3.240
  5 in total

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