Metlay L A, Smythe P S, Miller M E
Am J Med Genet. 1987 Mar;26(3):577-81. doi: 10.1002/ajmg.1320260311.
We report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum. His chromosomes were normal. He died at 19 months. His mother was short and had hearing impairment, choanal atresia, and a coloboma. We suggest that this represents evidence for dominant transmission of this disorder in this family. Other familial cases from the literature are reviewed.
我们报告了一名患有CHARGE综合征的患者，其表现为视神经乳头缺损、先天性心脏缺陷（房间隔缺损、室间隔缺损和降落伞样二尖瓣）、后鼻孔闭锁、严重生长发育迟缓、生殖器发育不全、耳部异常、唇腭裂和鸡胸。他的染色体正常。他于19个月时死亡。他的母亲身材矮小，有听力障碍、后鼻孔闭锁和缺损。我们认为这表明该疾病在这个家族中呈显性遗传。本文还回顾了文献中其他家族性病例。
