Bilginturan N, Zileli S, Karacadag S, Pirnar T
J Med Genet. 1973 Sep;10(3):253-9. doi: 10.1136/jmg.10.3.253.
A family showing brachydactyly associated with hypertension is reported. The number and location of the involved bones are quite different from the other cases with brachydactyly reported in the literature. Additionally, all our patients have high blood pressure. We believe that the disorder reported here represents a hitherto undescribed entity. It is thought that both hypertension and brachydactyly are transmitted as an autosomal dominant trait by a single pleiotropic gene or by two closely located genes.
报道了一个患有与高血压相关的短指症的家族。受累骨骼的数量和位置与文献中报道的其他短指症病例有很大不同。此外，我们所有的患者都患有高血压。我们认为这里报道的病症代表了一种迄今未被描述的实体。据认为，高血压和短指症都是由单个多效基因或两个紧密连锁的基因以常染色体显性性状遗传的。
