Literature DB >> 4019538

Tarsal and carpal coalition and symphalangism of the Fuhrmann type. Report of a family.

J P Drawbert, D B Stevens, R G Cadle, B D Hall.   

Abstract

We are reporting on fifteen members of a five-generation family (sixty-three members) who had an autosomal dominant osseous disorder that was characterized by tarsal and carpal coalition, symphalangism, short first metacarpals, and abnormalities of the elbow, including humeroradial fusion. This family is similar to the one reported by Fuhrmann et al.

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Year:  1985        PMID: 4019538

Source DB:  PubMed          Journal:  J Bone Joint Surg Am        ISSN: 0021-9355            Impact factor:   5.284


  5 in total

1.  Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

Authors:  Akira Ganaha; Tadashi Kaname; Yukinori Akazawa; Teruyuki Higa; Ayano Shinjou; Kenji Naritomi; Mikio Suzuki
Journal:  J Hum Genet       Date:  2014-11-13       Impact factor: 3.172

2.  Tarsal-carpal coalition syndrome: importance of early diagnosis.

Authors:  Gloria Tze Yan Lau; Gayatri Athalye-Jape; Natasha Amery
Journal:  BMJ Case Rep       Date:  2019-06-06

3.  Case report 857: Hereditary symphalangism with carpal and tarsal fusions and deafness.

Authors:  C M Perme; S P Johnson; A S Weinstein
Journal:  Skeletal Radiol       Date:  1994-08       Impact factor: 2.199

4.  Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.

Authors:  Ryan J Carlson; Alicia Quesnel; Dawson Wells; Zippora Brownstein; Dror Gilony; Suleyman Gulsuner; Kathleen A Leppig; Karen B Avraham; Mary-Claire King; Tom Walsh; Jay Rubinstein
Journal:  Otol Neurotol       Date:  2021-09-01       Impact factor: 2.619

5.  A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.

Authors:  Kenichi Takano; Noriko Ogasawara; Tatsuo Matsunaga; Hideki Mutai; Akihiro Sakurai; Aki Ishikawa; Tetsuo Himi
Journal:  Hum Genome Var       Date:  2016-08-04
  5 in total

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