Literature DB >> 2721020

Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy?

T I Farag1, R N Schimke.   

Abstract

Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that this clinical combination represents a distinct type of EDS.

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Year:  1989        PMID: 2721020     DOI: 10.1111/j.1399-0004.1989.tb02916.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

Review 1.  Ehlers-Danlos syndrome and neurological features: a review.

Authors:  Salvatore Savasta; Pietro Merli; Martino Ruggieri; Lucia Bianchi; Maria Valentina Spartà
Journal:  Childs Nerv Syst       Date:  2010-08-10       Impact factor: 1.475

Review 2.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

Review 3.  The association of hereditary neuropathies and heritable skeletal disorders.

Authors:  A K Chattopadhyay; R H Kandler; B Sharrack
Journal:  Postgrad Med J       Date:  1995-04       Impact factor: 2.401

4.  Complex Scapular Winging following Total Shoulder Arthroplasty in a Patient with Ehlers-Danlos Syndrome.

Authors:  John G Skedros; Colton M Phippen; Tanner D Langston; Chad S Mears; Amy L Trujillo; Robert M Miska
Journal:  Case Rep Orthop       Date:  2015-08-12
  4 in total

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