THE NATURAL-HISTORY OF HEREDITARY MULTIPLE EXOSTOSES
THE NATURAL-HISTORY OF HEREDITARY MULTIPLE EXOSTOSES
复制标题
DOI：
10.2106/00004623-199407000-00005
复制
发表时间：
1994-07-01
影响因子：
5.3
通讯作者：
RASKIND, WH
中科院分区：
文献类型：
--
作者：
SCHMALE, GA;CONRAD, EU;RASKIND, WH
我们建立了一个华盛顿州的遗传性多发性外生骨疣数据库，在回顾性审查的医疗记录和家庭成员的临床评价的基础上，以确定患病率，临床表现范围，和恶性变性率。该数据库包括46个家族，113名受影响的成员，所有家族至少有一名成员居住在华盛顿州，总患病率至少为1/50，000。大约10%的受试者没有多发性外生骨疣的家族史。我们使用了23个家系，证明了足够的多代病史来确定该基因的突变率，在26个专性杂合子中，我们确定了一个未受影响的个体，突变率为96%。没有证据表明女性受试者的突变率显著降低。113个受影响个体诊断时的中位年龄为3岁（范围，出生至12岁）。在一个有84名受试者的队列中，我们有完整的信息，临床表现的范围很广：33名（39%）前臂明显畸形，8名（10%）四肢不等长，7名（8%）膝关节成角畸形，2名（2%）踝关节畸形。已知手术史的患者的平均手术次数为2次。在42名可以评估功能的受试者中，11名（26%）的评分为差; 9名（21%），一般; 6名（14%），良好; 16名（38%），优秀。在编写本报告时，在113名受影响的受试者中，只有一人（0.9%）被诊断为软骨肉瘤。然而，这些人中有76人不到40岁，因此这一比率可能会随着时间的推移而增加。
We established a database of hereditary multiple exostoses for the state of Washington, on the basis of a retrospective review of the medical records and a clinical evaluation of family members, to determine the prevalence, clinical range of expression, and rate of malignant degeneration. The database comprised forty-six kindreds with 113 affected members; all kindreds had at least one member living in the state of Washington.The over-all prevalence was at least one in 50,000. Approximately 10 per cent of the subjects had no family history of multiple exostoses. With the use of twenty-three pedigrees that demonstrated an adequate multigenerational history for determination of penetrance of the gene, we identified one unaffected individual among twenty-six obligate heterozygotes, a rate of penetrance of 96 per cent. There was no evidence for a substantial reduction of penetrance in female subjects.The median age at the time of the diagnosis in the 113 affected individuals was three years (range, birth to twelve years). in a cohort of eighty-four subjects for whom we had complete information, the clinical range of expression was wide: thirty-three (39 per cent) had an obvious deformity of the forearm, eight (10 per cent) had an inequality in the lengths of the limbs, seven (8 per cent) had an angular deformity of the knee, and two (2 per cent) had a deformity of the ankle. The average number of operations for the patients for whom the operative history was known was two. Of the forty-two subjects for whom function could be assessed, eleven (26 per cent) had a rating of poor; nine (21 per cent), fair; six (14 per cent), good; and sixteen (38 per cent), excellent. At the time of writing, chondrosarcoma had been diagnosed in only one (0.9 per cent) of the 113 affected subjects. However, seventy-six of these individuals were less than forty years old, so this rate may increase over time.