Takashi Oki

Treatment of congenital pseudarthrosis of the tibia: a multicenter study in Japan.

Treatment of congenital pseudarthrosis of the tibia (CPT) remains a challenge. To clarify the current situation in treatment, a multicenter study was carried out to obtain information on the results of CPT treatment. The objective of this study was to propose appropriate treatment guidelines for CPT. Records of 73 patients with CPT who underwent surgical treatment were collected from 32 hospitals. The modality of the treatment was 26 with Ilizarov technique, 25 with free vascularized fibular graft, 7 with a combination of the two techniques, 6 with intramedullary nailing with free bone grafting, 5 plating with free bone grafting, and 4 with other treatments. Fifty-four procedures resulted in union, 7 resulted in delayed union, 7 were left un-united, 1 underwent amputation, and the results were unknown in 4. According to the results of this study, the most acceptable methods of treatment of CPT are the Ilizarov method and the vascularized fibular graft.

Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture.

The Antley-Bixler syndrome is a rare disorder characterized by craniosynostosis, midface hypoplasia, radiohumeral synostosis, joint contractures, arachnodactyly, and femoral bowing and fractures. We report four cases with this disorder, all of which had craniosynostosis, midface hypoplasia with characteristic facial appearance, and contractures of bilateral elbow joints. However, femoral bowing, fractures, and arachnodactyly were not seen in our patients. In addition, proximal phalanges of the thumb and the great toe showed deformity of the delta phalanx in two cases. Characteristic features in these cases were the synostotic deformity of the elbow joint; three had radioulnahumeral synostosis, and one had radioulnar synostosis. Therefore, our cases indicated that various synostotic patterns of the elbow joints may exist in this syndrome. It is reasonable to propose that characteristic craniofacial appearance associated with the synostosis of the elbow joints of various forms should be considered minimal diagnostic criteria of the Antley-Bixler syndrome.

Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava.

Clinical and ultrastructural study of four cases of Coffin-Lowry syndrome (CLS), a heritable disorder with peculiar facies, stooped posture, vertebral changes, and mental retardation, is reported. Three of the four cases had myelopathy caused by calcification of the ligamenta flava in early adulthood. These patients demonstrated that CLS is a calcium pyrophosphate dihydrate crystal deposition disease, and it is postulated that a metabolic abnormality in collagen and in proteoglycans are responsible for some aspects of CLS.

Ultrastructure of cartilage in heritable disorders of connective tissue.

Ultrastruct of cartilage were examined in Marfan syndrome, Menkes kinky hair syndrome, achondroplasia, asphyxiating thoracic dysplasia, mild diastrophic dysplasia and mucopolysaccharidoses I and III. Ruthenium red staining revealed decrease of proteoglycans in cases with Marfan syndrome and kinky hair syndrome, and increase in cases with osteochondrodysplasia and mucopolysaccharidosis III. This morphologic tendency coincided with the result obtained by biochemical analysis of glycosaminoglycan contents in cartilage matrix from cases with Marfan syndrome (decreased content) and asphyxiating thoracic dysplasia (increased content). It was postulated that proteoglycan content in cartilage matrix might be related to excessive or reduced skeletal growth in Marfan syndrome or osteochondrodysplasia.

Clinical features and treatment of joint dislocations in Larsen's syndrome. Report of three cases in one family.

Of 3 cases of Larsens syndrome in one family, one had bilateral dislocation of the hip and the knee joints. The knee joint was not reduced by manipulation and corrective cast, while both hip and knee joints were simultaneously reduced by skeletal traction of the tibia at the age of 4 months, and the course was satisfactory. Reduction of joint dislocations should be attempted by a conservative method such as skeletal traction as early as possible. Various radiographic skeletal abnormalities occurred in all 3 cases. Larsens syndrome very likely has a genetic origin.

Agenesis of bilateral iliac bone. A case report.

In a boy one year eight months of age, absence of the entire ilium was associated with spinal and rib anomalies. The ischium and pubis were present. Arthrograms of the hip joint revealed a normal configuration of the femoral head with the joint capsule attached proximally to the ischium and pubis.

Familial arthrogryposis with distal involvement of the limbs.

Five cases of arthrogryposis multiplex congenita in two families characterized by autosomal dominant inheritance, intrafamilial variability and primary involvement of the distal part of the limbs were analyzed to suggest that this condition is comparable to previously reported cases classified as distal arthrogryposis or digitotalar dysmorphism. These patients may represent a specific clinical entity. Heritable disorders should be distinguished from other forms of arthrogryposis for purposes of genetic counseling as well as therapeutic management.

Patellar dislocation in achondroplasia.

The knee was assessed by normal plain radiographs in 20 achondroplasia patients (40 lower extremities), whose age ranged from 10.5 to 23 years. Five patients (seven knees) had permanent patellar dislocation. There was a significant difference between the achondroplasia group and control group (50 knees without skeletal dysplasia) for femoral sulcus angle but not for femorotibial angle, Insall–Salvati index and Q angle. Patellar dislocation for achondroplasia may be caused not only by the abnormalities of soft tissue but also a small groove of patellofemoral joint as a bony malformation.

Chondrodysplasia Punctata with Myopathic Involvement

Abstract Histopathological examination of the muscle and the iliac crest cartilage were performed in a one year 6‐month‐old girl with chondrodysplasia punctata. The patients mother was also affected.