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. We propose that this clinical combination represents a distinct type of EDS.
Farag
T I
TI
Kuwait Medical Genetics Centre.
Schimke
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RN
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*