Kaplan J, Maroteaux P
Ann Genet. 1984;27(2):79-82.
A new case of the recently described oto-palato-digital type II is reported. The authors insist on the characteristic anomalies, the facial dysmorphism, the overlapping and deviation of the digits, the proximal implantation and hypoplasia of the big toe, and the deafness. Radiologically, the massive appearance of the bones, their incurvation, their defective modeling are characteristic of the syndrome. Life expectancy is often reduced. X-linked inheritance with minor stigmata in the heterozygous females is well established.
本文报告了一例最近描述的耳-腭-指综合征II型的新病例。作者强调了其特征性异常，包括面部畸形、手指重叠和偏斜、大脚趾近端植入和发育不全以及耳聋。放射学上，骨骼的块状外观、弯曲以及塑形缺陷是该综合征的特征。预期寿命通常缩短。X连锁遗传在杂合子女性中伴有轻微体征已得到充分证实。
