1纖毛病的診斷1 Towards the diagnosis of a ciliopathyPhilip L.Beales,Thomas D.Kenmy 2阿爾斯特雷姆綜合征8 Alstr?m syndrome Richard Paisey 3熱納綜合征及纖毛類軟骨發育不良28 Jeune syndrome and the ciliary chondrodysplasias Miriam Schmidts 4朱伯特綜合征和朱伯特綜合征相關疾病55 Joubert syndrome and Joubert syndrome-related disorders Victoria Harrison,Andrea H.Nemeth 5巴爾得-別德爾綜合征79 Bardet-Biedl syndromePhilip L.Beales,Elizabeth Forsythe 6萊伯先天性黑矇和其他非綜合征性視網膜纖毛病93 Leber congenital amaurosis and other non-syndromic retinal ciliopathiesThomas D.Kenmy,PhilipL.Beales,Ronald Roepman 7梅克爾-格魯伯綜合征114 Meckel-Gruber syndromeGabrielle Wheway,Colin A.Jolnson 8腎消耗病129NephronophthisisShalabh Srivastava,Jolm A.Sayer 9口-面-指綜合征I型139 Oral-facial-digital type I syndromeBrumela Franco 10常染色體顯性遺傳性多囊性腎病149 Autosomal dominant polycystic kidney diseaseRichard Sandford 11常染色體隱性遺傳性多囊性腎病166 Autosomal recessive polycystic kidney diseaseCarsten Bergmann 12原發性纖毛運動障礙186Primary ciliary dyskinesiaClaire Hogg 13厄舍綜合征203Usher syndrome Maria Bitner-Glindzicz,Zubin Saihan14尚未被證實為纖毛病的綜合征224 Syndromes not yet proven to be ciliopathiesKate Baker