David B. Stevens

Multiple epiphyseal dysplasia. Report of a pedigree.

Six generations of one family with multiple epiphyseal dysplasia were evaluated with identification of twenty-four affected individuals. The genetic mechanism was established to be an autosomal dominant with complete penetration. Paresthesias, transitory paraplegia of the legs, unusual hypothenar dermatoglyphic patterns, osteochondritis dissecans, and Blount-Barber disease were noted in association in one or more family members. The roentgenographic sign of the slanted ankle joint appeared to be a new sign not previously described. Unusually good roentgenograms in follow-up showed a normal appearing neonate with gradual progression to the full blown syndrome as the skeletal structures matured.

POSTOPERATIVE ORTHOPAEDIC INFECTIONS. A STUDY OF ETIOLOGICAL MECHANISMS.

1. A retrospective analysis of the postoperative infections and related factors in 1,287 orthopaedic operations has been presented. 2. Postoperative wound infection is a significant problem in the area surveyed, occurring in 4.35 per cent of the cases. 3. The occurrence of postoperative wound infection is determined by many etiological factors, some of which have been described. The particular surgeon, the length of time that the wound is open, and improper use of antibiotics were shown to be significant factors in the incidence of infection.

Risk of refracture through unicameral bone cysts of the proximal femur.

The authors determined the results after traction or traction and hip spica treatment of the initial fractures through unicameral bone cysts of the proximal femur in 20 children. All of the eight displaced fractures healed, but with coxa vara and avascular necrosis in one, coxa vara in a second, and coxa breva in a third. Spontaneous healing of the cyst occurred in three of the eight children; satisfactory healing was achieved and maintained after intralesional corticosteroid injections in four of the eight children. In the remaining child with a displaced fracture, reactivation of the cyst and exercise-related pain, indicative of an incipient refracture, occurred 3 years after initial presentation. All of the 12 undisplaced fractures healed without deformity or avascular necrosis. Intralesional corticosteroids were used in all of the 12 children because none of them showed spontaneous healing of their cysts. Satisfactory radiographic healing was achieved 1 year after presentation in all of the 12 children. However, one or more refractures resulting from reactivation of the cyst occurred in 6 of the 12 children 2 to 5 years after initial presentation. The results of this study indicate that satisfactory radiographic healing needs to be achieved by the end of the first year and needs to be maintained thereafter to prevent refractures.

Hip abnormalities in children with Charcot-Marie-Tooth disease.

Hip dysplasia was recently observed in association with Charcot-Marie-Tooth disease (CMT). We retrospectively reviewed available radiographs of 74 of 100 children with clinically and electrodiagnostically proven CMT and noted six cases of hip dysplasia. Minor hip abnormalities, most commonly increased neck shaft angles, were noted in 21 other patients. Type I usually causes more weakness and had more hip dysplasia than type II. A female predominance was noted but may have resulted from sampling of more immature radiographs in males. Most dysplasia was asymptomatic and was detected only on screening radiographs.

Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome

Summary. Recent studies have suggested the HoxA10, HoxA11 and HoxD11 homeobox genes as candidate loci for the thrombocytopenia with absent radius (TAR) syndrome. For example, targeted disruptions of these Hox genes result in abnormal development of the mouse radius, while overexpression of HoxA10 stimulates mouse megakaryocyte (MK) development in vitro. To examine the expression of Hox genes in human MK cells, we utilized reverse transcription polymerase chain reaction with degenerate oligonucleotides to study megakaryocytic cell lines (MEG‐01, DAMI), and primary human MK purified from adult and cord blood. Using this approach, 13 out of 40 clones isolated from cell lines, 10 out of 21 from cord MK, and 11 out of 21 from adult MK were identified as HoxA10, while HoxA11 and HoxD11 sequences were not detected. The normal genomic sequences for the human HoxA10, ‐A11, and ‐D11 genes were then determined and sequenced in 10 unrelated individuals with TAR syndrome. In all patients the derived amino acid sequence for the three Hox genes was identical to normal controls. Southern blotting did not reveal genomic rearrangements or deletions at these loci, and in two patients intact HoxA10 transcripts were detected by amplification in myeloid cells. Although these studies cannot completely exclude the possibility that the TAR syndrome results from non‐coding mutations that affect the level of Hox gene expression in megakaryocytes, mutations in the coding sequence of the Hox genes known to affect radial development are not a common cause of TAR syndrome.

Spinal deformity in Charcot-Marie-tooth disease

Study Design This retrospective study revlewed 100 children with clinically and electrodiagnostically proven Charcot-Marie-Tooth disease (CMTD) Objective To determine the incidence of spinal deformity in children with CMTD. Summary of Background of Data A 10% incidence of hyphoscoliois has been reported. Methods All charts and electrodiagnostic studies were reviewed to confirm that CMTD diagnostic criteria were met. Existing radiographs on 89 children were available. Cobb angles were measured and deformity was defined as scoliosis ≥ 10° and kyphosis >40°. Results Thirty-seven of 89 CMTD children had spinal deformity. There was scoliosis in 20, kyphoscoliosis in 14, and kyphosis in 3. In children with radiographs taken at maturity, 50% had deformity. The most common scolotic pattern was a thoracic curve with convexity in either direction. Spinal deformity is more likely in fermale and Type 1 patients. Conclusion This study found an incidence of 37%-50% spiral deformity in children with CMTD, with female and Type 1 patients at greatest risk. However, the deformity rarely required treatment.

Three-dimensional hindfoot motion in adolescents with surgically treated unilateral clubfoot.

Advances in imaging and computerized analyses have enabled three-dimensional bone motion in the treated clubfoot to be measured precisely. Three-dimensional translations and rotations of the talus, calcaneus, navicular, and cuboid of surgically treated clubfeet were less in magnitude and sometimes different in direction (or without motion in a specific plane) compared with the contralateral normal feet. Surgical techniques used for clubfoot treatment do not restore normal hindfoot bone motion when examined with high-resolution magnetic resonance imaging, computer reconstruction, and image analysis techniques. These data advance the knowledge of hindfoot bone motion and establish a new and quantitative objective.

Heel Cord Advancement in Children with Spastic Equinus Deformity

Heel cord advancement has been advocated for treatment of spastic equinus deformity. Transferring the gastrosoleus anteriorly weakens it by changing the lever arm rather than the resting length. A retrospective review of 90 children with 122 limbs undergoing heel cord advancement revealed 11% excellent, 53% good, and 35% poor results (average follow-up 9.7 years). The results were statistically better in diplegics and community walkers. The better results in previous studies may be due to procedure modifications and shorter follow-up. Since we obtain comparable results with simpler heel cord lengthenings, we no longer do heel cord advancement.