Kaplan F S, McCluskey W, Hahn G, Tabas J A, Muenke M, Zasloff M A
Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia.
J Bone Joint Surg Am. 1993 Aug;75(8):1214-20. doi: 10.2106/00004623-199308000-00011.
Fibrodysplasia ossificans progressiva is a rare connective-tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and skeletal muscles. We document the genetic transmission of fibrodysplasia ossificans progressiva from a sporadically affected father to each of his three children: two daughters and a son. Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins, that an increased paternal age has been associated with sporadic occurrences of the disorder, and that there have been several reports of genetic transmission in the remote past. Although an autosomal-dominant genetic transmission has long been suspected, the findings in the family reported on here provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients who have this disease.
进行性骨化性纤维发育不良是一种罕见的结缔组织疾病，其特征为大脚趾先天性畸形以及肌腱、韧带、筋膜和骨骼肌进行性异位骨化。我们记录了进行性骨化性纤维发育不良从一位散发患病的父亲遗传给其三个孩子（两个女儿和一个儿子）的过程。先前对遗传病因的考虑基于以下事实：该疾病已在多对同卵双胞胎中被报道，父亲年龄增加与该疾病的散发性发生有关，并且在遥远的过去也有几例遗传传递的报道。尽管长期以来一直怀疑其为常染色体显性遗传，但本文报道的这个家族中的发现为此类遗传提供了证实，也为患有这种疾病的患者的诊断和咨询提供了依据。
