姐妹同患黏多糖贮积症Ⅰ型
CHINESE JOURNAL OF MEDICAL GENETICS(2010)
Abstract
先证者
女,9岁,第2胎第1产,足月顺产.出生时身长45 cm,体重3750 g,Apgar评分10分[1].1岁半前生长发育与同龄儿童无差异,之后开始出现脊柱轻度后突,手端膨大,出现"手镯".体格、智力发育较同龄儿童迟缓.2岁时当地医院诊断为"佝偻病",口服钙剂和肌注维生素D3治疗,效果差.
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