Strømme Koppang H, Boman H, Hoel P S
Virchows Arch A Pathol Anat Histopathol. 1983;398(3):247-62. doi: 10.1007/BF00583583.
The oral and dental features of a case of the Saldino-Noonan lethal short rib-polydactyly syndrome (SNS) are described. Natal teeth were noted. The anterior maxillary and mandibular fornices and the central labial frenula were absent. The tongue appeared larger than normal and lacked the sulcus terminalis and the vallate and foliate papillae. The tooth anlagen were abnormal. Microscopic studies revealed small tooth buds, in which hard tissue formation was more advanced than gestational age; abnormalities were noted primarily in the most recently formed dental tissue, indicating that the biochemical defect responsible for this disorder had acted abnormally on dentinogenesis mainly shortly prior to birth. Studies of oral and tooth development should be important to better understanding the abnormal function of the chondrodystrophy genes.
本文描述了一例萨尔迪诺-努南致死性短肋多指综合征(SNS)患者的口腔和牙齿特征。发现有 natal teeth(出生时即萌出的牙齿)。上颌前部和下颌穹窿以及中央唇系带缺失。舌头看起来比正常的大,没有界沟、轮廓乳头和叶状乳头。牙胚异常。显微镜研究显示有小的牙蕾,其中硬组织形成比孕周更超前;主要在最近形成的牙组织中发现异常,这表明导致该疾病的生化缺陷主要在出生前不久对牙本质形成产生了异常作用。口腔和牙齿发育的研究对于更好地理解软骨发育不良基因的异常功能应该具有重要意义。