Teebi A S
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Clin Dysmorphol. 1992 Jul;1(3):151-6.
Six children (5 male, 1 female) of normal first cousin Arab parents were found to have Silver-Russell syndrome. Manifestations included intrauterine and postnatal growth retardation, lateral asymmetry, relatively large head, small triangular face with prominent ears, clinodactyly of the fifth fingers, disproportionate toes, and normal psychomotor development. Intrafamilial variability was minimal. Parental consanguinity and affected siblings of both sexes strongly suggest autosomal recessive inheritance. Similar cases from literature are briefly reviewed.
在正常的阿拉伯近亲父母所生的六个孩子(5名男性,1名女性)中发现患有Silver-Russell综合征。临床表现包括宫内和出生后生长迟缓、身体侧方不对称、头部相对较大、小三角形脸伴耳朵突出、第五指弯曲、脚趾比例失调以及精神运动发育正常。家族内变异极小。父母近亲结婚以及有患病的兄弟姐妹,这强烈提示为常染色体隐性遗传。对文献中类似病例进行了简要回顾。