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A group of epileptic and nonepileptic patients from an institution for mentally retarded persons was surveyed for roentgenographic and biochemical abnormalities of calcium metabolism. Osteoporosis, hypocalcemia, and increased alkaline phosphatase were found to be significantly increased in incidence in the epileptic group. The only significant difference(More)
A case report of an apparently unique progeroid syndrome is reported here. Major clinical characteristics included growth failure with onset of senility in the early teens, atrophic skin, hypogonadism, and retinal and vascular sclerosis. Mental retardation was present, but could have been attributable to trauma. The replicative life spans of several lines(More)
We report a novel mutation of the signal peptide of the prepro-PTH gene associated with autosomal recessive familial isolated hypoparathyroidism. The proposita presented with neonatal hypocalcemic seizures. Serum calcium was 1.5 mmol/L (normal, 2.0-2.5); phosphate was 3.6 mmol/L (normal, 0.9-1.5). She was born to consanguineous parents. A few years later, 2(More)
The underlying causes of 35 children with primary congenital hypothyroidism at the Children's Hospital were studied. There were 21 girls and 14 boys. Serum T4 and TSH level, 24 hours 131I uptake, and technetium-99m thyroid scintigraphy were performed after discontinuation of synthetic thyroid hormone for 4-6 weeks. Athyrosis was the most common cause and(More)
The authors reported a twelve year and four-month old girl who had prolonged fever for 2 weeks. Physical examination revealed a painless enlarged thyroid gland with firm consistency. Hyperparathyroidism was suspected because of hypercalcemia, hypophosphatemia, high level of serum alkaline phosphatase, and decreased density of long bones. Thyroid scan showed(More)
  • S Churesigaew
  • 1994
Kenny-Caffe Syndrome is rarely found. From 1966-1993 only 22 cases were reported worldwide. The author presented a case of Kenny-Caffe Syndrome who showed typical findings, i.e. short stature, small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia with tetany at 1 month of age, hyperphosphatemia, hyperopia of both(More)