先天性钙化性软骨营养不良症

• 作 者: 诸慧华
• 机 构: 北京医科大学第三医院儿科,
• 出 处: 新生儿科杂志
• 发表日期: 1986年02期
• 关键词: 骨骺软骨 产钳助产 婴儿室 后鼻塞 钙盐沉着 宫内窘迫 病由 降压灵 新生儿疾病 遗传性疾病

本病由Cofradi 1914年首次报告,是一种伴有提前骨化的软骨营养不良症(1,2)其特点是骨骺软骨有不规则的钙盐沉着,呈点状分布。为少见的遗传性疾病,国外报道其发病率约为1/50,000(2),国内未见报道。我院报告一例如下。病历摘要患儿,男,4天,因生后鼻塞、喘憋于1981年11月9日由本院产科婴儿室转入我科。第1胎,足月,产钳助产,娩出前有宫内窘迫,胎心60～90次/分,羊水绿,生后青

This disease, first reported by Cofradi in 1914, is a form of cartilage malnutrition associated with advanced ossification (1,2), which is characterized by irregular calcium deposition and punctate distribution in the epiphyseal cartilage. For rare genetic diseases, the incidence of foreign reports about 1 / 50,000 (2), no reports of domestic. A report of our hospital is as follows. Medical summary Children, male, 4 days, due to nasal obstruction, wheezing on November 9, 1981 by the hospital obstetric baby room into our department. The first child, term, forceps midwifery, intrauterine distress before delivery, fetal heart rate 60 to 90 beats / min, amniotic fluid, afterlife