Shashi V, Zunich J, Kelly T E, Fryburg J S
Division of Medical Genetics, University of Virginia, Health Sciences Center, Charlottesville 22901, USA.
J Med Genet. 1995 Jun;32(6):465-9. doi: 10.1136/jmg.32.6.465.
A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal recessive disorder because of recurrence in sibs. The main features include ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. We report a fifth child with the condition, confirming the unique nature of the condition. Long term follow up information on this patient, as well as the previously described cases, provides information regarding the outcome for these patients, which includes general good health, severe mental retardation, seizures that worsen after puberty, conductive hearing loss, and chronic migratory ichthyosiform skin rash without scarring.
1983年描述了一种新的神经外胚层综合征（命名为CHIME综合征），共报告了4例患者，由于同胞中出现复发，推测这是一种常染色体隐性疾病。主要特征包括眼裂、先天性心脏病、早发性游走性鱼鳞病样皮肤病、智力迟钝、传导性听力丧失、癫痫发作和典型的面部特征。我们报告了第五例患有该疾病的儿童，证实了该疾病的独特性质。关于该患者以及先前描述病例的长期随访信息，提供了这些患者的预后情况，包括总体健康状况良好、严重智力迟钝、青春期后癫痫发作加重、传导性听力丧失以及无瘢痕的慢性游走性鱼鳞病样皮疹。
