先证第六胎,女,1岁11月,住院号48004。因坐立不稳4个月入院。患儿足月产,孕产史及生后六个月内无异常。六个月后逐渐瘦弱,10个月会坐,1岁2月会站,现尚不会讲话、行走。近4个月来不能再翻身、坐稳。体检:体重6kg,瘦弱,方颅,皮肤发黑,前囟未闭,睫毛长,巩膜兰,牙无异 First permit of the sixth child, female, 1 year old in November, hospital number 48004. Because of instability 4 months admission. Children with full-term pregnancy, pregnancy history and within six months after birth, no abnormalities. Gradually thin after six months, 10 months will sit, 1-year-old will be standing in February, is still not talking, walking. Nearly 4 months can no longer stand up, sit tight. Physical examination: weight 6kg, thin, square cranium, dark skin, anterior fontanel, eyelashes long, sclera orchid, no teeth