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患者,女,24岁,已婚。出生2岁后出现生长迟缓,并逐渐出现脊柱畸形,曾在北京某医院就医,诊为“脊柱结核”,治疗无好转,骨骼畸形日益加重。于22岁时结婚,足月顺产一男婴(其尿粘多糖测定阴性)。一个月前咳嗽,咯白痰伴气喘、胀,当地治疗无好转于1988年5月4日住我院。患者家族中无类似患者,其父母姐妹尿粘多糖测定均阴,性。查体:身高114cm.消瘦,皮肤白而厚,无毛细血管扩张.角膜裂隙灯下无混浊,颌骨突出,口大,鼻矮,牙间隙增宽,牙釉质发育不全,颈短,颈静脉充盈,肝颈静脉逆流征阳性,鸡胸,严重脊柱后凸畸形,双肺呼吸音粗,散在哮鸣音,右下肺少量中小水泡音。心前区无隆起,心界向双侧稍增
Patient, female, 24 years old, married. Growth retardation after birth 2 years, and gradual emergence of spinal deformity, had a hospital in Beijing for treatment, diagnosed as “spinal tuberculosis”, the treatment did not improve, the skeletal deformity is getting worse. Married at the age of 22, full-term one-year-old baby boy (urine polyglutamine negative). Cough a month ago, slightly sputum with asthma, swollen, no improvement in local treatment May 4, 1988 live in our hospital. Patients in the family with no similar patients, their parents, sisters and urine mucopolysaccharide were both negative, sexual. Physical examination: height 114cm. Weight loss, white and thick skin, no telangiectasia. Corneal slit lamp without turbid, prominent jaw, mouth large, short nose, widened gap, enamel hypoplasia, short neck, jugular vein Filling, positive jugular vein reflux sign, chicken breast, severe kyphosis, lung breath sounds coarse, scattered wheeze, right lower lung a small amount of small and medium blisters sound. Pre-anterior zone without uplift, the heart slightly increased to both sides