Graat Harm C A, van Rhijn Lodewijk W, Schrander-Stumpel Connie T R M, van Ooij André
Department of Orthopaedic Surgery, Academic Hospital Maastricht, Maastricht, The Netherlands.
Spine (Phila Pa 1976). 2002 Nov 15;27(22):E485-7. doi: 10.1097/00007632-200211150-00020.
Classic cases of Scheuermann disease in male monozygotic twins are reported.
To report classic cases of Scheuermann disease or Scheuermann kyphosis in male monozygotic twins, and to discuss the previous two cases of classic Scheuermann disease in monozygotic twins and the genetic etiology theory of Scheuermann kyphosis.
The etiology of Scheuermann disease remains unclear. Both genetic and mechanical factors or a combination of the two have been postulated to explain Scheuermann disease. The genetic etiology hypothesis has been explained by an autosomal dominant inheritance pattern. In support of this genetic etiology hypothesis, two cases of Scheuermann disease in monozygotic twins have been reported in the English literature.
The criteria of Sørensen and Sachs et al were used to diagnose Scheuermann kyphosis. Clinical examination and lateral spinal radiographs were performed on a male monozygotic twin. Both parents were clinically investigated for signs of a kyphotic deformity. RESULTS Scheuermann disease was noted in both patients at the same vertebral levels. The Cobb angle of the kyphosis was 74 degrees and 48 degrees, respectively. Clinical examination of both parents did not show any kyphotic abnormality.
These cases of classic Scheuermann disease in monozygotic male twins support the theory that there is a genetic contribution in classic Scheuermann disease.
报告男性单卵双胞胎中的典型休门氏病病例。
报告男性单卵双胞胎中的典型休门氏病或休门氏后凸畸形病例，并讨论之前两例单卵双胞胎中的典型休门氏病病例以及休门氏后凸畸形的遗传病因理论。
休门氏病的病因尚不清楚。遗传因素和机械因素或两者的结合都被假定用来解释休门氏病。遗传病因假说已通过常染色体显性遗传模式来解释。为支持这一遗传病因假说，英文文献中已报道了两例单卵双胞胎中的休门氏病病例。
采用索伦森和萨克斯等人的标准诊断休门氏后凸畸形。对一名男性单卵双胞胎进行了临床检查和脊柱侧位X线片检查。对其父母进行了临床检查，以查找后凸畸形的体征。结果：两名患者在相同椎体水平均发现休门氏病。后凸畸形的Cobb角分别为74度和48度。对其父母的临床检查未发现任何后凸异常。
这些男性单卵双胞胎中的典型休门氏病病例支持了经典休门氏病存在遗传因素的理论。
