Biomedical subjects
Publications and source records attributed to G C Robinson.
A pedigree with a new form of hereditary sensory neuropathy is described. Ataxia and scoliosis rather than loss of pain and ulcerating acropathy are the principal clinical feature. Analysis of the pedigree suggests a dominant mode of transmission with variable age of onset and perhaps reduced penetrance.
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Dermineralization and disorganized bone growth may result in children treated with diphosphonates.
Two second cousins with infantile polymyoclonus are described. All other published cases in the literature are sporadic,and the occurrence of two cases of this exceedingly rare disorder in one family raises the possibility of genetic transmission. Careful examination of the family pedigree is indicated in this disorder.
Four children had optic nerve hypoplasia with hypopituitarism, and their clinical picture varied with age. The newborn had apnea, hypotonia, seizures, hyopglycemia, and prolong jaundice. The young infant had defective vision, behavioral delay, hypotonia, and seizures. Except for a mildly receding lower jaw and a high-arched palate, the appearance of the patients was not unusual. The fasting blood glucose level was mildly depressed. In two cases the liver was palpable and results of liver function tests were abnormal. The older child, who was blind and mentally retarded, had growth failure. The extent of the pituitary hormone deficiencies was variable, including diabetes insipidus. The septum pellucidum was not invariably absent. Clinical and pathological findings indicate that the brain lesion might be more diffuse than hitherto recognized. Early recognition of this syndrome and timely intervention might diminish serious sequels.
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A multidisciplinary team is described which was developed for dealing with the complex problems of the visually handicapped child in British Columbia. One hundred blind children were studied. Optic atrophy was the most frequent type of ocular pathology, followed by cataracts and retinopathy of prematurity. The most common etiological basis of blindness was genetic followed by unknown, infective and due to excessive neonatal oxygen. Seventy-seven percent of the patients had one to seven additional disabilities. The role of the physician in the handling of blind children and the need for him to be increasingly exposed to the chronically handicapped in his training are emphasized.
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