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

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....

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Bibliographic Details
Published inClinical genetics Vol. 35; no. 2; p. 121
Main Authors Farag, T I, Schimke, R N
Format Journal Article
LanguageEnglish
Published Denmark 01.02.1989
Subjects
Adolescent
Adult
Consanguinity
Ehlers-Danlos Syndrome - physiopathology
Electromyography
Eye Diseases - physiopathology
Female
Humans
Male
Polyneuropathies - physiopathology
Scoliosis - physiopathology
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Summary: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.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1989.tb02916.x