Farag T I, Schimke R N
Kuwait Medical Genetics Centre.
Clin Genet. 1989 Feb;35(2):121-4. doi: 10.1111/j.1399-0004.1989.tb02916.x.
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.
据报道,一对近亲结婚的贝都因父母和祖父母所生的两兄弟姐妹具有Ⅵ型埃勒斯-当洛综合征(EDS)的表型特征。此外,经神经传导速度、肌电图和肌肉活检研究证实,这两名受影响个体患有多发性神经病。我们认为这种临床组合代表了一种独特类型的EDS。