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Biomedical subjects

A N Conner

Publications and source records attributed to A N Conner.

18 recordsLinked to original sources
PubMed1989

Dominant inheritance of Scheuermann's juvenile kyphosis.

We report a family in which Scheuermann's juvenile kyphosis is present in three successive generations with male to male transmission. This provides further evidence for autosomal dominant inheritance in at least some families with this condition.

Adolescent↗
PubMed1988

Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity.

Two siblings with spondylothoracic dysostosis, and two siblings and three unrelated children with spondylocostal dysostosis are described. Both conditions are inherited and characterised by malformed thoracic and lumbar vertebrae. Spondylothoracic dysostosis produces "crab-like" deformities of the ribs, and is usually fatal during early infancy due to respiratory failure. Spondylocostal dysostosis causes short-trunked dwarfism but does not usually reduce life expectancy. These clinical features are distinct from congenital scoliosis, although all three conditions are associated with a particular group of malformations.

Abnormalities, Multiple↗
PubMed1987

Genetic aspects of early childhood scoliosis.

Eighty-seven families with early onset scoliosis were evaluated. These were divided into 3 groups: resolving infantile idiopathic scoliosis (15 families), progressive infantile idiopathic scoliosis (21 families), and congenital scoliosis due to vertebral malformations (51 families). The children with congenital scoliosis were subdivided into those who had closed neural arch defects (19 families) and those who did not (32 families). Resolving infantile idiopathic scoliosis was usually associated with plagiocephaly, and both deformations tended to show spontaneous recovery. These children were otherwise normal. Seven (33%) of the children with progressive infantile idiopathic scoliosis were mentally retarded, but only 2 had a congenital malformation. In contrast, 18 (33%) of the children with congenital scoliosis had other malformations, but only 2 were mentally retarded. The recurrence risk for scoliosis was low in each group studied. However, there was an increased risk (4% for sibs) of neural tube defects in the families with congenital scoliosis (with or without neural arch defects). This sib risk was apparent for probands with only a single hemivertebrum in addition to probands with more extensive vertebral defects and would support an etiological relationship between neural tube defects and other vertebral malformations.

Abnormalities, Multiple↗
PubMed1986

Normal electroencephalograms in idiopathic scoliosis.

Twenty-five children with idiopathic scoliosis and without known neurologic disease and 25 age- and sex-matched controls had a standard electroencephalogram (EEG) performed and scrutinised blind. The EEGs were normal in the 25 children with idiopathic scoliosis and 24 controls were normal. Our study does not support the view that idiopathic scoliosis has a central neurologic cause.

Adolescent↗
PubMed1985

The assessment of lung function in children with scoliosis.

Abnormalities of lung function in 92 children with idiopathic or congenital scoliosis are described. The changes are restrictive in type with reduction in vital capacity and total lung capacity but normal residual volume. In children whose curves had an early onset, the amount by which vital capacity was reduced depended on the severity of the deformity; in those whose curves began in adolescence this severity had little or no effect on vital capacity. Most adolescents with idiopathic curves had normal or near normal lung volumes and measurement of vital capacity proved to be a reliable screening test. We therefore advocate a simple approach to the pre-operative pulmonary investigation of scoliotic patients; only a few require full spirometry.

Adolescent↗