Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Am J Med Genet A. 2011 Jun;155A(6):1393-7. doi: 10.1002/ajmg.a.33966. Epub 2011 May 12.
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic criteria of 3C syndrome and who also have alopecia, camptodactaly and significant renal involvement. Interestingly, two otherwise normal female siblings have unilateral renal agenesis only. This report expands the phenotypic spectrum of 3C syndrome.
Ritscher-Schinzel（颅心肾，3C）综合征是一种多系统先天畸形综合征，被认为是常染色体隐性遗传，但尚未发现遗传缺陷。在一个沙特的近亲家庭中，我们发现了 4 名符合 3C 综合征诊断标准的患者，他们还患有脱发、指（趾）弯曲和严重的肾脏受累。有趣的是，另外两名正常的女性同胞只有单侧肾脏发育不全。本报告扩大了 3C 综合征的表型谱。
