Langer L O, Brill P W, Afshani E, Williams C A, Thomas I T, Frias J L
Department of Radiology, University of Minnesota Hospital, Minneapolis.
Skeletal Radiol. 1991;20(1):37-41. doi: 10.1007/BF00243719.
We describe the radiographic findings in two siblings with a previously unrecognized craniotubular bone dysplasia. We call this condition craniometadiaphyseal dysplasia, wormian bone type. Because the parents of the siblings are consanguineous, this is probably a genetically determined condition with an autosomal recessive type of transmission. The findings in the siblings are compared with those of a woman with the same condition, previously reported as an example of craniometaphyseal dysplasia. The combination of findings in these patients seems diagnostic: characteristic skull changes including multiple wormian bones; wide long tubular bones without normal metaphyseal flaring; wide short tubular bones without normal diaphyseal constriction and sometimes actual diaphyseal expansion; and wide ribs and clavicles.
我们描述了两名患有此前未被认识的颅管状骨发育异常的同胞的影像学表现。我们将这种病症称为颅干骺端发育异常，缝间骨型。由于这两名同胞的父母是近亲结婚，这可能是一种由常染色体隐性遗传方式决定的遗传性病症。将这两名同胞的表现与一名患有相同病症的女性（此前作为颅干骺端发育异常的一个例子被报道）的表现进行了比较。这些患者的综合表现似乎具有诊断意义：特征性的颅骨改变包括多发缝间骨；长管状骨增宽且干骺端无正常的喇叭口状；短管状骨增宽且骨干无正常的缩窄，有时骨干实际增粗；肋骨和锁骨增宽。
