Melorheostosis in a family with autosomal dominant osteopoikilosis.

We describe a 19-year-old woman with melorheostosis and osteopoikilosis (mixed sclerosing bone dysplasia). Her sister and mother had osteopoikilosis, but no evidence of melorheostosis. Isolated melorheostosis and melorheostosis with osteopoikilosis are sporadic disorders. Osteopoikilosis is an autosomal dominant trait. Mixed sclerosing bone dysplasia in a family with autosomal dominant osteopoikilosis raises the possibility that the two bone disorders may be related. This family and that of Butkus et al. [1997: Am J Med Genet 72:43-46] suggest that the melorheostosis could be due to a second mutation at the same locus as that which causes autosomal dominant osteopoikilosis.

Vibration arthrometry in congenital dislocation of the hip.

Three hundred six neonates referred to a research clinic for vibration arthrometry were studied to determine whether the application of objective methods could enhance the accuracy of hip examinations. A total of 629 vibration episodes (hip "clicks" and "clunks") were detected using miniature accelerometers and recorded during testing for congenital dislocation of the hip. Five categories of congenital dislocations of the hip (CDH) were defined: normal (53 cases), safe click (201 cases), click associated with later CDH (16 cases), unstable (14 cases), and late CDH (22 cases). Follow-up examinations were performed over a four-year period. Detailed measurement of vibration signals was possible and resulted in the resolution of eight variables for each episode. Two variables, pulse area and peak frequency, were selected for their power to discriminate between the five clinical groups. The pulse area values were higher for the late and unstable groups. In addition, the vibrations were examined using Fourier analysis, and the safe click group demonstrated higher frequency components than any other group. Vibration arthrometry is proposed as a possible adjunct in screening for CDH, as it may pick up cases that would be missed by an average examiner and it could monitor clicks, thus avoiding nonessential splintage.

Measurement of the Cobb angle on radiographs of patients who have scoliosis. Evaluation of intrinsic error.

To quantitate the intrinsic error in measurement, fifty anteroposterior radiographs of patients who had scoliosis were each measured on six separate occasions by four orthopaedic surgeons using the Cobb method. For the first two measurements (Set I), each observer selected the end-vertebrae of the curve; for the next two measurements (Set II), the end-vertebrae were pre-selected and constant. The last two measurements (Set III) were obtained in the same manner as Set II, except that each examiner used the same protractor rather than the one that he carried with him. The pooled results of all four observers suggested that the 95 per cent confidence limit for intraobserver variability was 4.9 degrees for Set I, 3.8 degrees for Set II, and 2.8 degrees for Set III. The interobserver variability was 7.2 degrees for Set I and 6.3 degrees for Sets II and III. The mean angles differed significantly between observers, but the difference was smaller when the observers used the same protractor.

Congenital dislocation of the hip. Early detection and prevention of late complications.

Most congenitally dislocated hips (CDHs) are inapparent and asymptomatic during the neonatal period, although at that time a high percentage can be detected. Treatment during this period can decrease the late sequelae of CDH. Although the abduction tests of Ortolani and Barlow are the standard methods of detection in the neonate, their value and their use in screening programs have been overemphasized. There is no evidence that the use of these tests in screening programs applied to large populations can consistently reduce the late sequelae of CDH. This overemphasis on neonatal screening results in a false sense of security with resultant lack of continued vigilance throughout the period of infancy.