Shprintzen R J, Goldberg R B, Young D, Wolford L
Pediatrics. 1981 Feb;67(2):167-72.
Thirty-nine patients with the velo-cardio-facial syndrome are described in order to further delineate this probably common recurrent pattern congenital malformation syndrome. Frequent features include cleft palate, cardiac anomalies, typical facies, and learning disabilities. Less frequent findings include microcephaly, mental retardation, small stature, slender hands and digits, minor auricular anomalies and inguinal hernia. Ths Robin malformation sequence was found in four patients. The congenital heart anomalies most frequently involved a ventricular septal defect, with or without a right-sided aortic arch. There were four instances of familial transmission in the sample population. These included two cases of maternal transmission of the syndrome to daughters, one case of maternal transmission to a son, and one case of maternal transmission to both a son and daughter. There was no particular difference in expression between male and female patients so that even though X-linked dominant transmission is possible, the velo-cardio-facial syndrome is likely to be an autosomal dominant recurrent pattern syndrome.
本文描述了39例腭心面综合征患者，以进一步明确这种可能常见的复发性先天性畸形综合征。常见特征包括腭裂、心脏异常、典型面容和学习障碍。较少见的表现包括小头畸形、智力迟钝、身材矮小、手指细长、耳部小畸形和腹股沟疝。4例患者出现罗宾序列征。先天性心脏异常最常见的是室间隔缺损，伴或不伴有右侧主动脉弓。样本人群中有4例家族性遗传。其中包括2例母亲将综合征传给女儿，1例母亲传给儿子，1例母亲同时传给儿子和女儿。男性和女性患者在临床表现上没有特别差异，因此尽管可能存在X连锁显性遗传，但腭心面综合征很可能是一种常染色体显性复发性综合征。
