Debeer Philippe, Pykels E, Lammens J, Devriendt K, Fryns J-P
Centre for Human Genetics, University Hospital Leuven, Herestraat, Leuven, Belgium.
Am J Med Genet A. 2003 Jun 1;119A(2):188-93. doi: 10.1002/ajmg.a.20072.
We describe a three-generation family with clinical and radiological findings of osteopoikilosis in five and melorheostosis in one individual. The co-occurrence of both rare bone disorders suggests that both conditions might be related as suggested previously by Butkus et al. [1997: Am J Med Genet 72:43-46] and Nevin et al. [1999: Am J Med Genet 82:409-414]. The findings in this family strengthen the hypothesis that osteopoikilosis is an autosomal dominant condition and that an early postzygotic second hit mutation in the second allele results in melorheostosis.
我们描述了一个三代家庭，其中五人有骨斑点症的临床和影像学表现，一人有肢骨纹状肥大。这两种罕见骨病的共同出现表明，正如Butkus等人[1997年：《美国医学遗传学杂志》72:43 - 46]和Nevin等人[1999年：《美国医学遗传学杂志》82:409 - 414]之前所提出的，这两种病症可能有关联。该家族中的发现强化了以下假说：骨斑点症是一种常染色体显性疾病，第二个等位基因的合子后早期二次打击突变会导致肢骨纹状肥大。
