Horowitz S, Morishima A, Vinkka H
Clin Genet. 1976 Mar;9(3):333-40. doi: 10.1111/j.1399-0004.1976.tb01582.x.
The cephalometric roentgenograms of persons with the syndrome of XO gonadal dysgenesis and its variants, and of those with Noonan's syndrome, were compared with a control sample of unaffected females matched for age. Posterior craniofacial relationships differ between XO and normal individuals, particularly in the region of the external auditory meatus, which is located relatively more inferiorly and anteriorly in XO gonadal dysgenesis subjects than in chromosomally normal persons. Individuals who are mosaics, and those with Noonan's syndrome, do not differ from the unaffected population to the same extent. Although the position of the auricle often changes appreciably with growth when judged by clinical criteria alone, cephalometric analysis of relative ear position may still support the diagnosis of "low-set" ears.
将患有XO性腺发育不全综合征及其变异型的患者以及患有努南综合征的患者的头影测量X线片与年龄匹配的未受影响女性的对照样本进行了比较。XO个体与正常个体的颅后面部关系不同，尤其是在外耳道区域，与染色体正常的人相比，XO性腺发育不全患者的外耳道位置相对更靠下和靠前。嵌合体个体和患有努南综合征的个体与未受影响人群的差异程度不同。尽管仅根据临床标准判断时，耳廓位置通常会随着生长而发生明显变化，但对头耳相对位置的头影测量分析仍可能支持“低位耳”的诊断。
