Williams M A, Shprintzen R J, Rakoff S J
J Craniofac Genet Dev Biol. 1987;7(1):23-6.
The velo-cardio-facial syndrome is one of the most comprehensively studied congenital malformation syndromes of clefting. More than 20 features have been described to date. The purpose of this investigation is to report evidence for congenital hypoplasia of the adenoids in over 80% of the cases studied. Radiographic and nasopharyngoscopic studies of 30 children with velo-cardio-facial syndrome were reviewed along with 30 age- and sex-matched children with nonsyndromic cleft palate to determine the size of their adenoid masses. Eighty-three percent of the subjects with velo-cardio-facial syndrome were found to have small or absent adenoids, whereas only 20% of the controls were found to have small adenoids. None of the control sample had total adenoid absence. These findings may have significant implications for the hypernasal speech patterns often found in individuals with velo-cardio-facial syndrome and may also be related to histories of frequent upper respiratory illnesses in this group.
腭心面综合征是研究最为全面的先天性腭裂畸形综合征之一。迄今为止，已描述了20多种特征。本研究的目的是报告在超过80%的研究病例中存在腺样体先天性发育不全的证据。回顾了30例腭心面综合征患儿以及30例年龄和性别匹配的非综合征性腭裂患儿的影像学和鼻咽镜检查结果，以确定其腺样体大小。结果发现，83%的腭心面综合征受试者腺样体较小或无腺样体，而对照组中只有20%的人腺样体较小。对照组样本中无一例腺样体完全缺失。这些发现可能对腭心面综合征患者中常见的高鼻音语音模式具有重要意义，也可能与该组患者频繁的上呼吸道疾病史有关。
