Keymolen K, Bonduelle M, De Maeseneer M, Liebaers I
Department of Radiology, University Hospital, Vrije Universiteit Brussel.
Genet Couns. 1997;8(3):207-11.
Osteopathia with cranial sclerosis (OS-CS) is an autosomal dominant condition, which is characterized by typical radiological changes of the skull and the long bones, in association with a wide variety of clinical symptoms. A family is reported with at least three affected individuals. One of them, a young women and her husband asked for a preconceptional advice, but the highly variable expressivity, as documented by this family, made it very difficult to counsel them properly.
伴有颅骨硬化的骨病（OS-CS）是一种常染色体显性疾病，其特征为颅骨和长骨典型的放射学改变，并伴有多种临床症状。本文报道了一个至少有三名患者的家系。其中一名年轻女性及其丈夫寻求孕前咨询，但正如该家系所记录的那样，其高度可变的表现度使得对他们进行恰当的咨询变得非常困难。
