Krauss C M, Herman T E, Holmes L B
Am J Med Genet. 1985 Jan;20(1):159-63. doi: 10.1002/ajmg.1320200119.
We report on a father and son who have telecanthus, hypertelorism, strabismus, and pes cavus. In addition, the son has hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of fingers bilaterally, a small tissue mass on the tip of his nose, and radiographic findings including flared metaphyses of long bones and osteopenia.
我们报告了一对父子,他们患有内眦间距增宽、眼距过宽、斜视和弓形足。此外,儿子患有尿道下裂、双侧腹股沟疝、双侧手指尺侧偏斜和屈曲指、鼻尖有一个小组织块,以及影像学表现,包括长骨干骺端增宽和骨质减少。