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Ehlers‐Danlos syndrome: a new oculo‐scoliotic type with associated polyneuropathy?
Author(s) -
Farag Talaat I.,
Schimke R. Neil
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb02916.x
Subject(s) - ehlers–danlos syndrome , polyneuropathy , medicine , muscle biopsy , scoliosis , biopsy , anatomy , dermatology , surgery
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.