五、治疗
本综合征Ⅰ型预后差,多在1~2岁死亡。Ⅱ型预后较好。
无特殊治疗,对症处理。患者若症状较多病情严重时,常在婴幼儿期死亡。存活者有多发性骨、眼和精神方面的缺陷。对先天性白内障可在1~2岁内手术,以免发生弱视。骨畸形也可手术治疗。
参考文献
[1]Bukkems S F,Ijspeert W J,Vreenurg M,et al.Het syndroom van Conradi-Hünermann-Happle[Conradi-Hünermann-Happle syndrome][J].Ned Tijdschr Geneeskd,2012,156(10):A4105.
[2]Cañueto J,Girós M,González-Sarmiento R.The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome[J].Biochimica et Biophysica Acta,2014,1841(3):336-344.(https://www.daowen.com)
[3]Ozyurt K,Subasioglu A,Ozturk P,et al.Emopamil binding protein mutation in conradi-hünermannhapple syndrome representing plaque-type psoriasis[J].Indian Journal of Dermatology,2015,60(2):216.
[4]Bartsch F,Ackermann M,Lang H,et al.Unfused liver segments:A case report of an unknown phenotype of the conradi-hünermann-happle syndrome[J].Journal of Gastrointestinal and Liver Diseases,2016,25(4):547-549.
[5]Lambrecht C,Wouters C,van Esch H,et al.Conradi-hünermann-happle syndrome:A novel heterozygous missense mutation,c.204G>T(P.W68C)[J].Pediatric Dermatology,2014,31(4):493-496.
(段宁 王文梅)