Winter R M, Meire H B, Mitchell N
Clin Genet. 1980 Dec;18(6):462-74. doi: 10.1111/j.1399-0004.1980.tb01795.x.
Cranial sclerosis with osteopathia striata was diagnosed in four members of a family in three generations. The expression of the gene varied from mild cranial enlargement to cranial abnormality associated with severe Pierre-Robin triad. The disorder was diagnosed prenatally in the most severely affected member of the family from the finding of an increased biparietal diameter of the fetal head on ultrasound examination.
一个家族的三代人中，有四名成员被诊断出患有颅骨硬化症并伴有条纹状骨病。该基因的表现形式各异，从轻度颅骨增大到与严重的皮埃尔 - 罗宾三联征相关的颅骨异常。通过超声检查发现胎儿头部双顶径增加，对该家族受影响最严重的成员进行了产前诊断。
