Twenty patients are described with a distinctive clinical syndrome characterised by progressive cerebellar ataxia developing within the first two decades. This is associated with dysarthria, pyramidal signs in the limbs, normal or increased knee jerks and upper limb reflexes and in some instances sensory loss. Inheritance is probably autosomal recessive in the majority, if not all, of the cases...

Evaluation of pediatric spinal deformity requires knowledge of special orthopaedic testing and radiographic interpretation. The determination of recommendations for treatment of spinal abnormalities in children can be challenging and at times complex, as treatment options are dependent upon a variety of factors. The etiology of scoliosis or kyphosis, presence or absence of vertebral anomalies, ...

The treatment of deformities of the nasal septum and the hypertrophy of the turbinates is necessary because in many of these cases the deformity is of exclusive respiratory cause, in which case the patient will be submitted to maxillary impaction to correct this vertical skeletal growth pattern. When impacting the maxilla, it is a fact that the nasal cavity will be diminished, because when the ...

Current population studies characterize idiopathic scoliosis as a single-gene disorder that follows the patterns of mendelian genetics, including variable penetrance and heterogeneity. The role of melatonin and calmodulin in the development of idiopathic scoliosis is likely secondary, with indirect effects on growth mechanisms. Reported abnormalities of connective tissue, skeletal muscle, plate...

Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist fractures following minor trauma. The radiological findings revealed abnormally broad metaphyses of the tubular bones, known as Erlenmeyer-flask bone...

The hand and wrist are rare sites for tuberculosis (TB) and account for < 1% of all skeletal TB. Though rare, TB of the wrist is a cause of major morbidity. A common feature in the available reports on wrist TB is a delay in diagnosis causing residual stiffness and pain after treatment. Although TB of the wrist has a varied presentation, the majority of lesions respond to conservative treatment...

Bony ankylosis of the temporomandibular joint (TMJ) in a male patient was not diagnosed until the patient reached his early teens, at which time the condition was treated with a costochondral graft. At the time of treatment, there was an expectation that further orthognathic surgery would be required to correct the skeletal deformity. However, with the release of the ankylosis and growth of the...

Scoliosis is a spinal deformity that can be seen in children of all ages. It is most commonly seen as an adolescent idiopathic condition. Progressive scoliosis between 25° and 45° before skeletal and physiologic maturity can be treated with a brace, whereas progressive scoliosis greater than 50° should be treated surgically. For children younger than 10 years, it is important to not only preven...

GOLDENHAR (1952) reviewed the literature relating to a syndrome consisting of epibulbar dermoids or lipodermoids, auricular appendices, and certain skeletal anomalies. Forty such cases or variants thereof have so far been recorded and Sugar (1966) added three more. We have recently seen an infant with ocular epibulbar dermoids, auricular appendices, congenital hydrocephalus, meningo-encephaloce...

Background Idiopathic scoliosis (IS) is a deformity of the spine that occurs in up to 4% of children during childhood and adolescence. Idiopathic scoliosis is considered multifactorial, and family history may present several individuals affected. We still cannot determine which curves will worsen and at what rate, but some factors, such as age, growth potential and skeletal maturity have been a...