Puliafito C A, Wray S H, Murray J E, Boger W P
Am J Ophthalmol. 1981 Nov;92(5):696-701. doi: 10.1016/s0002-9394(14)74664-1.
Four members of one family had craniometaphyseal dysplasia. Two of the four had severe optic atrophy with profound loss of vision as a complication of this disorder. Optic nerve decompression attempted in one patient may have caused a reduction in the vision of that eye. Eight years later this patient underwent craniofacial surgery uneventfully for contouring of her facial and cranial bones, but osteotomies and intracranial surgery were specifically avoided because of bony over-growth in the foramen magnum region.
一个家庭的四名成员患有颅骨骨干发育异常。这四人中有两人出现严重视神经萎缩并伴有严重视力丧失，这是该疾病的一种并发症。一名患者尝试进行视神经减压术，这可能导致了该眼视力下降。八年后，这名患者顺利接受了颅面手术以修复其面部和颅骨轮廓，但由于枕骨大孔区域骨质过度生长，特意避免了截骨术和开颅手术。
