Gambon R, Amato M
Helv Paediatr Acta. 1984 Aug;39(3):279-83.
Since the first description by Rubinstein and Taybi in 1963 more than 250 cases of this syndrome have been reported in the literature, but only few cases in the neonate. We present a patient with the typical clinical aspect who was diagnosed at birth. Early recognition of this condition is important for counselling the parents.
自1963年鲁宾斯坦和泰比首次描述该综合征以来,文献中已报道了250多例此综合征病例,但新生儿病例很少。我们报告一例出生时即被诊断出具有典型临床症状的患者。早期识别这种疾病对于向家长提供咨询很重要。