Klemp P, Hall J G
Queen Elizabeth Hospital, Rotorua, New Zealand.
Am J Med Genet. 1995 Feb 13;55(4):414-9. doi: 10.1002/ajmg.1320550406.
The index case was a Maori bushman who presented with severe congenital spinal stenosis and manifestations of distal arthrogryposis. His offspring and 8 of his 9 sibs and most of their offspring were interviewed and examined. Of those examined 7 individuals with definite and 2 with probable distal arthrogryposis were identified in 4 of the families. A tenth relative with distal arthrogryposis and contractural arachnodactyly had died. There was marked variability in the severity and nature of manifestations with 2 having severe hand and foot involvement in addition to craniofacial changes compatible with a diagnosis of Freeman-Sheldon syndrome. Other apparently unrelated hereditary disorders in the family included ectrodactyly, biliary atresia, and Brachmann-de Lange syndrome. This is the first report of arthrogryposis in a Maori family.
索引病例是一名毛利丛林居民，患有严重的先天性脊柱狭窄和远端关节挛缩症的表现。对他的后代、9个兄弟姐妹中的8个及其大多数后代进行了访谈和检查。在4个家庭中，经检查确定有7人患有明确的远端关节挛缩症，2人可能患有远端关节挛缩症。第十个患有远端关节挛缩症和挛缩性蜘蛛指的亲属已经去世。临床表现的严重程度和性质存在明显差异，其中2人除了有与弗里曼-谢尔登综合征诊断相符的颅面变化外，还伴有严重的手足受累。该家族中其他明显无关的遗传性疾病包括缺指畸形、胆道闭锁和布-德二氏综合征。这是毛利家族中关节挛缩症的首例报告。
