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作者发现不同遗传方式成骨不全症2家系。家系Ⅰ,先证者,女,14岁,回族,自7岁第1次骨折后,几乎每年都有反复多发性骨折。四肢骨骼弯曲畸形。蓝色巩膜明显,听力未见异常。X线检查,见骨质疏松,骨皮质薄,脊柱弯曲,椎体呈双凹变形,双侧肱骨及股骨均可见新旧性骨折。临床诊断为成骨不全症。先证者的父亲及祖父同患此病。家系调查3代23人,发病者10人,占家族成员的43.5%,每代都有患者,男女均有发病,系常染色体显性遗传。
The authors found two genetic lines of osteogenesis imperfecta. Family I, proband, female, 14 years old, Hui, since the first fracture after the age of 7, almost every year, repeated multiple fractures. Extremities skeletal flexion deformity. Clear blue sclera, no abnormal hearing. X-ray examination, see osteoporosis, thin cortical bone, curvature of the spine, vertebral bivalve deformation, bilateral humerus and femur are visible old and new fractures. Clinical diagnosis of osteogenesis imperfecta. The proband’s father and grandfather with the disease. Family survey of 3 generations of 23 people, the incidence of 10 people, accounting for 43.5% of family members, each generation has patients, both men and women with onset, Department of autosomal dominant inheritance.