Gorlin R J, Zellweger H, Curtis M W, Wiedemann H R, Warburg M, Majewski F, Gillessen-Kaesbach G, Prahl-Andersen B, Zackai E
Department of Oral Sciences, University of Minnesota, Minneapolis, USA.
Am J Med Genet. 1996 Oct 16;65(2):109-12. doi: 10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N.
Patients with the autosomal dominant ble-pharo-cheilo-dontic (BCD) syndrome have ectropion of lower eyelids, distichiasis of upper eyelids, euryblepharon, bilaterally cleft lip/palate, oligodontia, and conical crown form. Initially known under the eponym "Elschnig syndrome" (1912), BCD syndrome has been described in binary, ternary, and quaternary combination. There is overlap with the syndrome reported by Martínez et al. [1987], postaxial acrofacial dysostosis (Miller syndrome, Genée-Wiedemann syndrome), and a syndrome reported briefly by Warburg.
患有常染色体显性遗传性睑裂唇齿综合征（BCD综合征）的患者存在下睑外翻、上睑双行睫、睑裂增宽、双侧唇腭裂、牙发育不全及牙冠呈圆锥形。BCD综合征最初以“埃尔施尼格综合征”（1912年）这一名称为人所知，已被描述为二元、三元和四元组合形式。它与马丁内斯等人[1987年]报道的综合征、轴后性肢端面部发育不全（米勒综合征、热内 - 维德曼综合征）以及瓦尔堡简要报道的一种综合征存在重叠。
