Department Genetics, CHU Bordeaux, Université Bordeaux 2, Bordeaux Cedex, France.
Am J Med Genet A. 2010 Dec;152A(12):3016-21. doi: 10.1002/ajmg.a.33761.
We report on a three-generation family affected with an osteochondrodysplasia transmitted as an autosomal dominant trait. The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has not been reported to the best of our knowledge. The brachydactyly falls into the brachydactyly A1 category (especially short 2nd, 4th, and 5th middle phalanges). A unique feature in one family member is triphalangeal thumbs. Vertebrae are normal. Mental development is normal and deafness is seen in some of the family members. A mutation was excluded by sequencing the entire coding regions of the IHH gene encoding the Indian Hedgehog protein and the GDF5 gene. This condition is a novel chondrodyplasia phenotype or possibly one end of the spectrum of the brachydactyly A1.
我们报告了一个三代家系，其患有常染色体显性遗传的骨软骨发育不良。表型包括肱骨短、桡骨弯曲，尺骨近端三分之一有附加骨化中心，身材矮小和短指畸形，据我们所知，以前没有报道过这种疾病。短指畸形属于短指畸形 A1 型（特别是第二、四、五指中节骨特别短）。一个家族成员的一个独特特征是三指拇指。椎体正常。智力发育正常，一些家庭成员有听力损失。通过对编码印度刺猬蛋白的 IHH 基因和 GDF5 基因的整个编码区进行测序，排除了突变。这种情况是一种新的软骨发育不良表型，也可能是短指畸形 A1 的一端。
