Spada A, Ambrosiani S
Ospedale Civile S. Croce di Cuneo, Divisione Pediatrica.
Arch Sci Med (Torino). 1969 Apr;126(4):189-94.
A brief account of craniofacial synostosis is presented. The cranium is acrocephalic owing to the early closure of the coronal and lambdoid sutures. The crown is typically rudimentary where the anterior fontanel is still open. Cranial radiography shows digitate markings. Skeletal changes lead to hypertelorism, exophthalmos and strabismus. The nose is of the parrot's beak type and the hypoplasic upper jaw is in contrast with the lower jaw, resulting in pseudo-prognathism. These basic malformations are accompanied by several other deformities. The disease may appear as a hereditary or as a sporadic occurrence. The cases described in the present paper confirm the hereditary interpretation of the syndrome, since both were accompanied by positive familial histories. In the first case, the signs of the disease were less evident, whereas in the second the picture was complete and both mother and daughter presented impressive examples of the frog face sign.
本文简要介绍了颅面骨缝早闭症。由于冠状缝和人字缝过早闭合，颅骨呈尖头畸形。前囟门仍开放处的颅顶通常发育不全。颅骨X线摄影显示指状纹。骨骼变化导致两眼间距过宽、眼球突出和斜视。鼻子呈鹦鹉喙型，发育不全的上颌与下颌形成对比，导致假性下颌前突。这些基本畸形还伴有其他几种畸形。该疾病可能以遗传形式出现，也可能散发。本文所述病例证实了该综合征的遗传解释，因为两个病例都有阳性家族史。在第一个病例中，疾病体征不太明显，而在第二个病例中，症状完整，母亲和女儿都呈现出典型的蛙脸征。
