遗传性成骨不全临床及X线诊断探讨(附一家系42例报告)

目的探讨遗传性成骨不全诊断要点。方法对一家系健在的３５例遗传性成骨不全患者的临床和Ｘ线资料及死亡的７例的临床资料进行回顾性分析。结果（１）一家系五代４２例（男１８例，女２４例）患病，年龄１０个月至６７岁。（２）同时具有两种不同遗传方式（显性３５例，隐性７例）。（３）４２例均有深浅不同蓝色巩膜。（４）健在３５例的骨骼Ｘ线改变：２９例为普遍性骨密度减低，皮质薄，长管状骨细长，６例正常。２２例合并骨折。（５）进行性耳聋２４例（含死亡３例）。（６）蓝巩膜、骨脆、耳聋三联症２１例（含死亡３例）。（７）碱性磷酸酶升高（１７例）为本组实验室检查的特殊表现。结论蓝巩膜、骨脆、进行性耳聋为遗传性成骨不全的特征性表现，尤其蓝巩膜为本病首现及易显体征，为诊断必备条件。

An investigation on clinical radiological diagnosis of hereditary osteogenesis imperfecta(a report of 42 patients in a family)

Purpose To investigate the main points of diagnosing hereditary osteogenesis imperfecta. Methods Retrospective analysis of clinical and radiological diagnosis of hereditary osteogenesis imperfecta was done in 35 surviving patients and 7 deaths in a family. Results (1) A family was described in which hereditary osteogenesis imperfecta occurred in 5 generations. Forty two patients (18 males,24 females) ranged in age from 10 months to 67 years. (2) Both modes of inheritance existed simultaneously (dominant in 35 patients, recessive in 7 patients). (3) Blue sclera of different shades was found in all 42 patients. (4) Radiological change of bone was recognised in 35 surviving patients.The conditions were as follows: in 29 patients, general decreased bone density, thin bone cortex and long slender tubular bones were observed; six patients were normal; twenty two patients had fracture. (5) Twenty four patients (including 3 deaths) suffered form progressive deafness. (6)Twenty one patients (including 3 deaths) had the triad of blue sclera, osteopsathyrosis and progressive deafness. (7) An increase in alkaline phosphatase level(in 17 patients)was confirmed by the tests in our laboratory. Conclusion The authors suggested that the triad of blue sclera, osteopsathyrosis and progressive deafness is the characteristic manifestations of the disease, especially blue sclera, which may be regarded as an initial and suggestible physical sign, and an essential criterion for diagnosis.