Camlibel T, Mocan H, Kutlu N, Kutlu N
Jinemed Medical Center, Istanbul, Turkey.
Genet Couns. 1999;10(2):157-61.
The Roberts-SC (Pseudothalidomide) syndrome is a rare autosomal recessive disorder. We present a Roberts-SC Syndrome in a 20-day-old girl with phocomelia of the upper limbs, isolated cleft palate, micrognathia, prominent eyes, pectus excavatum, and pes equinovarus. Peripheral blood smear revealed thrombocytopenia and hypereosinophilia. Premature centromere separation in the child and also in her normal mother was noted.
罗伯茨- SC(伪沙利度胺)综合征是一种罕见的常染色体隐性疾病。我们报告了一名20日龄女童患有罗伯茨- SC综合征,其表现为上肢短肢畸形、孤立性腭裂、小颌畸形、突眼、漏斗胸和马蹄内翻足。外周血涂片显示血小板减少和嗜酸性粒细胞增多。在该患儿及其正常母亲中均观察到过早的着丝粒分离。