Literature DB >> 4443857

Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome.

C C Mabry, I S Barnett, M W Hutcheson, H W Sorenson.   

Abstract

A hand, foot, and mouth combination of anomalies, which is apparent on motion, has been traced through eight generations of a southern Appalachian family. The clinical features from birth to old age are presented, and attention is called to the handicapping aspects. There is a great variability in severity of the trait. Inheritance occurs as an autosomal dominant trait, but there are fewer affected persons than expected, especially females.

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Year:  1974        PMID: 4443857     DOI: 10.1016/s0022-3476(74)80453-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  2 in total

1.  Anaesthetic implications of the trismus pseudocamptodactyly (Dutch-Kentucky or Hecht Beals) syndrome.

Authors:  H Vaghadia; D Blackstock
Journal:  Can J Anaesth       Date:  1988-01       Impact factor: 5.063

2.  Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

Authors:  Ann E Davidson; Fazeel M Siddiqui; Michael A Lopez; Peter Lunt; Heather A Carlson; Brian E Moore; Seth Love; Donald E Born; Helen Roper; Anirban Majumdar; Suman Jayadev; Hunter R Underhill; Corrine O Smith; Maja von der Hagen; Angela Hubner; Philip Jardine; Andria Merrison; Elizabeth Curtis; Thomas Cullup; Heinz Jungbluth; Mary O Cox; Thomas L Winder; Hossam Abdel Salam; Jun Z Li; Steven A Moore; James J Dowling
Journal:  Brain       Date:  2013-02       Impact factor: 13.501

  2 in total

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