Occipitoatlantoaxial instability and congenital thoracic vertebral deformity in Pierre Robin sequence: a case report.

Study Design: Case report of a patient with Pierre Robin sequence who presented with occipitoatlantoaxial instability and congenital thoracic deformity.

Objective: As there are lack of similar cases in the literature, we would like to introduce a case of a patient with associated malformations, the consultations that we consider that are obligatory, and our decision-making process. We would also like to demonstrate the follow-up plan and the further key points about either the conservative or the surgical solution of the problem.

Positional cloning strategies for idiopathic scoliosis.

Aim: Idiopathic scoliosis (IS) affects approximately 1-2% of the population and has a heritable component. It is clear that in general IS displays the features of a complex genetic disorder; however families displaying a Mendelian inheritance pattern have been described. Our aim is to identify families segregating rare, highly penetrant loci.

SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.

Idiopathic scoliosis (IS) affects approximately 2%-3% of the population and has a heritable component. The genetics of this disorder are complex. Here, we describe a family in which a pericentric inversion of chromosome 8 co-segregates with IS.

The importance of arthroscopy in diagnosing synovial haemangioma of the knee joint.

In connection with one of their cases, authors call attention to the importance of differential diagnosis in synovial haemangioma of the knee joint, a rare condition. They also give a survey of its clinical, radiological and pathological features, review the literature on the topic, with special emphasis on the importance of arthroscopy in making the clinical diagnosis, and describe the treatment applied in their case.

Idiopathic scoliosis--new surgical methods or search for the reasons.

Idiopathic scoliosis (IS) is a deformity of the spine whose aetiology is unknown despite of extensive clinical and basic research work. The significance of this disease lies in the consequences of a spine deformity (deformation of the chest, compromise of the cardio-pulmonar function, compression of the neurological elements, severe somatic and psychological sufferings). According to statistical data, one third of the idiopathic scoliotic cases progress and need surgical intervention.

[Use of the "pain drawing test" in the diagnosis of degenerative lumbal spinal stenosis].

Authors describe the results of the application of the "Pain drawing test" patients examined and operated for degenerative lumbal spinal stenosis. Attention is called to the special view-points of the assessment. This method is judged useful both in preoperative and postoperative examinations as a supplementary diagnostic procedure.

[Results of combined surgical operations in the management of congenital hip dislocation].

The results of 51 different combined operations for the treatment of CDH after the age of two years performed between 1980 and 1989 are presented. The age of the patients at the time of the operation ranged from 2 to 12 (mean 4.5 years.

[Surgical treatment of hip dislocations in children and damages caused by conservative treatment methods].

For the major requirements of the operative technique and other special problems of operation it is reasonable to discuss among the questions of the reduction of CHD the reoperations and the reconstructive surgery of hips, badly damaged by the conservative treatment, separately. We have analysed the results of 19 own cases with an average follow up of 6.3 years (3-12 years).

Spondylolysis in osteopetrosis.

We report the occurrence of spondylolysis and/or spondylolisthesis of the lumbar vertebrae in five patients with osteopetrosis, four of them having multiple lesions. The case histories indicate that spondylolysis had developed in the pathological bone as a result of increased stress and that it is an acquired lesion.