Literature DB >> 12731619

Freeman-Sheldon syndrome: a case report.

Gamze Aren1, Zuhal Yurdabakan, Ilknur Ozcan.   

Abstract

Freeman-Sheldon syndrome, also called "whistling-face syndrome," is a very rare genetic condition, occurring both sporadically and by transmission through autosomal dominant or recessive mode, which affects primarily the face and skeleton. Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, and underdeveloped nose cartilage. This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development.

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Year:  2003        PMID: 12731619

Source DB:  PubMed          Journal:  Quintessence Int        ISSN: 0033-6572            Impact factor:   1.677


  3 in total

1.  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

Review 2.  Freeman-Burian syndrome.

Authors:  Mikaela I Poling; Craig R Dufresne; Robert L Chamberlain
Journal:  Orphanet J Rare Dis       Date:  2019-01-10       Impact factor: 4.123

3.  A novel technique of impression procedure in a hemimaxillectomy patient with microstomia.

Authors:  Suryakant C Deogade
Journal:  Case Rep Dent       Date:  2012-12-18
  3 in total

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