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1病例患儿,男,8月,系“8月独坐不稳,对声音反应差”入院,G1P1,足月剖宫产,否认生时窒息史和黄疸迁延史,患儿父母体检,否认近亲婚配和家族史,出生即发现患儿巩膜蓝色,7月余龄时发现患儿仍不能独坐,对外界声音反应差,就诊当地医院,行头颅MRI检查未见异常,遂就诊我院,门诊以“发育指标延迟、遗传代谢性疾病?”收入,入院体检:一般情况可,前额部散在数根白发,皮肤色素正常;双瞳孔等大等圆,双眼巩膜色素减退,内眦距
1 case of children, male, August, Department of “sit alone in August, poor response to sound ” admission, G1P1, full-term cesarean section, deny birth history of asphyxia and history of jaundice, physical examination of children with their parents , Denied the marriage and family history of inbreeding, was found in children with sclera blue, juvenile age in July found that children still can not sit alone, poor response to the outside world, visit the local hospital, line head MRI examination showed no abnormalities, then the doctor Our hospital, outpatient to “developmental delay, genetic metabolic disease ” income, admission examination: the general situation may be, the forehead scattered in the number of white hair, normal skin pigmentation; double pupil and other large round, binocular sclera hypoplasia , Within the distance away from home