Thodén C J, Ryöppy S, Kuitunen P
Acta Paediatr Scand. 1977 Sep;66(5):635-8. doi: 10.1111/j.1651-2227.1977.tb07960.x.
Four cases of oculodentodigital dysplasia are reported. Three cases are from the same family, father and two daughers. These three cases have the characteristics typical of this disorder: narrow nose, hypoplastic alae nasi, microphthalmia, defects of the teeth, syndactylyl of the IV and V fingers, and skeletal anomalies. The fourth case differs from the earlier reported cases; he has all the typical findings of oculodentodigital dysplasia but in addition he shows features not previously reported, namely exceptionally poor vision, mental retardation, monilethrix and pili annuli changes of the hair.
本文报告了4例眼齿指发育异常病例。其中3例来自同一个家庭，父亲和两个女儿。这3例具有该疾病的典型特征：鼻狭窄、鼻翼发育不全、小眼症、牙齿缺陷、第4和第5指并指以及骨骼异常。第4例与先前报道的病例不同；他具有眼齿指发育异常的所有典型表现，但除此之外，还表现出先前未报道的特征，即视力极差、智力迟钝、念珠状发和毛发环状改变。
