Domenici R, Giovannucci Uzielli M L, Lapi E, Castelli S
Pediatr Med Chir. 1984 Sep-Oct;6(5):695-7.
A patient with the velo-cardio-facial syndrome is described. The most 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 auricolar anomalies, and inguinal hernia. There were four instances of familial transmission in the 39 patients of the literature.
本文描述了一名患有腭心面综合征的患者。最常见的特征包括腭裂、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、手部和手指细长、耳部轻微异常以及腹股沟疝。文献中39例患者中有4例存在家族遗传情况。
