title: Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy?
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.
authors.affiliation: Kuwait Medical Genetics Centre.
authors.forename: T I
authors.initials: TI
authors.lastname: Farag
authors.forename: R N
authors.initials: RN
authors.lastname: Schimke
mesh_terms: D000293:Adolescent; D000328:Adult; D003241:Consanguinity; D004535:Ehlers-Danlos Syndrome / Q000503:physiopathology*; D004576:Electromyography; D005128:Eye Diseases / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D011115:Polyneuropathies / Q000503:physiopathology*; D012600:Scoliosis / Q000503:physiopathology*