粘多糖病Ⅰ型也称承霤症,是一种罕见的遗传病,我们得见一例,报告如下。 患儿,男,2岁,足月顺产,新法接生,母乳喂养,2岁断奶。父母系姨娘亲。自幼涕多,近日发现背柱后突而就诊,查体:发育差,精神可,颅大,角膜混浊,瞳间距增宽,塌鼻梁,口唇厚,舌宽厚。肋骨呈串珠状,赫氏沟明显。腹部膨隆,腰椎后凸畸形,站立时呈下蹲姿势。 Mucopolysaccharidosis type I, also known as Chengxu disease, is a rare genetic disease, we have to see an example, the report is as follows. Child, male, 2 years old, full term spontaneous abortion, new birth, breastfeeding, 2-year-old weaning. Parents are aunt and mother. More since childhood, recent discovery of dorsal column and suddenly see the doctor, physical examination: poor development, mental, cranial, corneal opacity, widening interpupillary distance, collapse of the nose, thick lips, tongue generous. Beaded ribs, Hirschstrove significant. Abdominal bulging, lumbar kyphosis, standing squat posture.