Craigen M A, Clarke N M
Department of Orthopaedics, Southampton General Hospital, UK.
J Hand Surg Br. 1995 Jun;20(3):331-2. doi: 10.1016/s0266-7681(05)80088-9.
A mother and daughter, both presented with congenital pseudarthrosis of the ulna due to neurofibromatosis. The daughter is one of identical twins, the second twin not having a pseudarthrosis. The mother's uncle also had pseudarthrosis of the tibia. This suggests a complex variable genetic inheritance pattern for pseudarthrosis in neurofibromatosis. Despite having had no treatment, the mother had minimal symptoms, minimal deformity, and no radial head dislocation.
一位母亲和女儿均因神经纤维瘤病而患有先天性尺骨假关节。女儿是同卵双胞胎之一,另一个双胞胎没有假关节。母亲的叔叔也患有胫骨假关节。这表明神经纤维瘤病中假关节存在复杂的可变遗传模式。尽管未接受治疗,但母亲症状轻微,畸形不明显,且无桡骨头脱位。