[伴有侏儒症和智力正常的关节挛缩：一种新的常染色体显性遗传家族综合征]
[Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome].
作者信息
Stoll C, Roth M P, Levy J M
出版信息
J Genet Hum. 1980 Sep;28(3):299-304.
PMID:7463030
Abstract
A father and his daughter has the same features: short stature, the distal phalanges, the wrists, the elbows, the feet and the knees were flexed. All other joints had abnormal range of motion. Kypho-scoliosis was present in the father only. Father's family was normal. Upon X-rays examination no abnormalities could be seen. This syndrome is inherited as autosomal dominant.
摘要
一位父亲和他的女儿有相同的特征
身材矮小，远端指骨、手腕、肘部、足部和膝盖弯曲。所有其他关节的活动范围都异常。只有父亲有脊柱后凸-脊柱侧凸。父亲的家族史正常。经X射线检查未见异常。这种综合征以常染色体显性方式遗传。
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