Franceschini P, Cirillo Silengo M, Bianco R, Biagioli M, Guala A, Lopez Bell G
Pediatr Radiol. 1986;16(4):330-3. doi: 10.1007/BF02386876.
Two sisters with Coffin-Siris syndrome, born to healthy unrelated parents, are reported. The accurate X-ray evaluation of the two patients allows the identification of some new features and a better delineation of the radiological phenotype. Our two cases confirm the proposed autosomal recessive inheritance of the syndrome.
本文报告了一对患有科芬-西里斯综合征的姐妹，她们的父母健康且无血缘关系。对这两名患者进行的精确X线评估发现了一些新特征，并更清晰地描绘了该综合征的放射学表型。我们的两个病例证实了该综合征为常染色体隐性遗传的推测。
