Kurczynski T W, Casperson S M
Medical College of Ohio, Toledo.
J Med Genet. 1988 Jul;25(7):491-3. doi: 10.1136/jmg.25.7.491.
A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified, but the constellation of findings in this family suggests a new syndrome different from those previously described.
本文描述了一个家族,其中颅缝早闭与特征性耳廓、短小的鼻小柱以及第四和第五趾的对称性并指相关联,呈常染色体显性遗传。已经确定了多种涉及颅缝早闭的显性遗传综合征,但该家族的一系列发现提示了一种不同于以往所描述的新综合征。