Kawira E L, Bender H A
Am J Med Genet. 1985 Mar;20(3):425-9. doi: 10.1002/ajmg.1320200302.
We report on a mother and her dizygotic twin fetuses who were affected with distal arthrogryposis. In addition the mother has cervical vertebral anomalies, scoliosis, short stature, nuchal and axillary pterygia, and unusual facial appearance. The fetuses had a short neck, pterygium colli, retrognathia, and mild apparent scoliosis. We think that these three individuals have a previously undescribed type of distal arthrogryposis.
我们报告了一位患有远端关节挛缩症的母亲及其双卵双胎胎儿。此外，这位母亲有颈椎异常、脊柱侧弯、身材矮小、颈部和腋窝翼状胬肉以及特殊面容。胎儿有短颈、颈蹼、小颌畸形和轻度明显的脊柱侧弯。我们认为这三个个体患有一种此前未被描述过的远端关节挛缩症类型。
