Sulh H M, Steinmann B, Rao V H, Dudin G, Zeid J A, Slim M, Der Kaloustian V M
Clin Genet. 1984 Mar;25(3):278-87. doi: 10.1111/j.1399-0004.1984.tb01990.x.
Two siblings born to consanguineous parents are reported with typical clinical features of the Ehlers-Danlos syndrome type IV. However, their cultured skin fibroblasts synthesize and secrete procollagen type III in normal amounts and proportions. This is probably a new form of the Ehlers-Danlos syndrome with autosomal recessive inheritance classified as Ehlers-Danlos syndrome type IV D.
据报道,一对近亲结婚父母所生的兄弟姐妹患有典型的IV型埃勒斯-当洛综合征临床特征。然而,他们培养的皮肤成纤维细胞合成和分泌的III型前胶原量和比例正常。这可能是一种常染色体隐性遗传的新型埃勒斯-当洛综合征,归类为IV D型埃勒斯-当洛综合征。