Andersen E, Sonnesen L, Kjaer M S, Fischer Hansen B, Kjaer I
Department of Orthodontics, School of Dentistry, University of Copenhagen, Denmark.
Eur J Orthod. 2000 Apr;22(2):185-94. doi: 10.1093/ejo/22.2.185.
From early childhood, Turner syndrome patients have a flattened cranial base, maxillary retrognathism, and short hands. There are, however, no studies that show when these genotype-determined abnormalities occur prenatally. The purpose of the present study was to measure craniofacial profile and hand radiographs of second trimester foetuses with Turner syndrome and compare the results with similar measurements from normal foetuses. The subjects consisted of 12 Turner syndrome foetuses, gestational age (GA) varying between 15 and 24 weeks, and crown-rump length (CRL) between 108 and 220 mm. The mid-sagittal block of each cranium was analysed as part of the requested brain analysis (pituitary gland analysis). This block and the right hand from seven foetuses were radiographed, and the skeletal maturity of the cranial base complex, i.e. the cranial base and the maxilla, was evaluated from the profile radiographs. Shape and size measurements in the cranial base were performed, and compared with normal values according to cranial maturity and to CRL. The cranial base angle in Turner syndrome was greater and the maxillary prognathism was reduced compared with the normal group. The dimensions in the cranial complex and in the hand showed that the bone lengths and distances in relation to CRL were generally smaller compared with normal foetuses. This investigation showed that the abnormal shape of the cranial base complex and the short hands in Turner syndrome are present prenatally.
从幼儿期起，特纳综合征患者就有颅底扁平、上颌后缩和手部短小的症状。然而，尚无研究表明这些由基因型决定的异常情况在产前何时出现。本研究的目的是测量患有特纳综合征的孕中期胎儿的颅面部轮廓和手部X光片，并将结果与正常胎儿的类似测量结果进行比较。研究对象包括12例特纳综合征胎儿，孕周在15至24周之间，顶臀长度在108至220毫米之间。作为所需脑部分析（垂体分析）的一部分，对每个颅骨的正中矢状块进行了分析。对其中7例胎儿的该骨块和右手进行了X光摄影，并从侧面X光片中评估颅底复合体（即颅底和上颌骨）的骨骼成熟度。对颅底的形状和尺寸进行了测量，并根据颅骨成熟度和顶臀长度与正常值进行比较。与正常组相比，特纳综合征患者的颅底角更大，上颌前突减小。颅部复合体和手部的尺寸显示，与正常胎儿相比，与顶臀长度相关的骨长度和距离通常较小。这项研究表明，特纳综合征患者颅底复合体的异常形状和手部短小在产前就已存在。
