genu valgum/alkaline phosphatase

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Primary hyperparathyroidism in a 14 year old girl presenting with bone deformities.

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A 14 year old girl with bilateral genu valgum of 6 years duration was brought for evaluation of primary hyperparathyroidism. She had clinical features of rickets such as frontal bossing, rachitic rosary, lumbar lordosis and fixed adduction deformity of the left leg. She had undergone osteotomy

[A rare cause of bone pain in children: primary hyperparathyroidism caused by adenoma].

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BACKGROUND Primary hyperparathyroidism is rare in children and adolescents. Bone changes may produce pain in the back or extremities, but this is rarely the first symptom of the disease. METHODS A 13 year-old girl suffered from pain in the back and lower extremities. Progressive bilateral genu

Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.

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Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical

Renal osteodystrophy in nondialysed adolescents. Long-term treatment with 1alpha-hydroxycholecalciferol.

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The effects of small oral doses (1-2 microgram/day) of 1alpha-hydroxycholecalciferol, given for 1 to 2 years, have been examined in four nondialysed adolescents with chronic renal failure and bone disease. Treatment increased calcium retention and plasma calcium, and decreased plasma levels of

[Rickets in Asian immigrants during puberty].

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Rickets usually occurs in the first two years of life and in puberty since metabolic demand is increased due to rapid growth in these two critical periods of life, when peak bone mass is achieved. Rickets remains one of the most prevalent pediatric diseases in developing countries. Although it is

Rickets among children of a coastal area of Bangladesh.

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Many children with rachitic deformities have been reported in southern coastal area of Bangladesh but the actual rate of prevalence was not known. A survey was conducted to determine the magnitude of rachitic problem among the children of Chakaria thana of Cox's Bazar district of Bangladesh. Nine

Clinical, biochemical and radiological manifestations of severe vitamin d deficiency in adolescents versus children: response to therapy.

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OBJECTIVE to compare clinical, biochemical and radiological manifestations of severe vitamin D deficiency (VDD - serum 25 OH - vitamin D level <10 ng/ml) in adolescents and children and to investigate the effects of an intramuscular injection (IM) of vitamin D3 megadose. METHODS in this prospective

[Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].

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Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related

Severe bone deformities in young children from vitamin D deficiency and fluorosis in Bihar-India.

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A case-control study was undertaken to understand the etiopathology of the bone deformities among young children in a fluoride-affected village of the Bihar State. Two villages were selected: one village with high fluoride in drinking water (7.9 +/- 4.15 ppm), and the other village with normal

Spot the silent sufferers: A call for clinical diagnostic criteria for solar and nutritional osteomalacia.

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Osteomalacia and rickets result from defective mineralization when the body is deprived of calcium. Globally, the main cause of osteomalacia is a lack of mineral supply for bone modeling and remodeling due to solar vitamin D and/or dietary calcium deficiency. Osteomalacia occurs when existing bone

A single case of hypophosphatemic rickets with hypercalciuria.

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A single case of hypophosphatemic rickets with hypercalciuria and an elevated level of serum 1,25 dihydroxyvitamin D is reported. The characteristic features (genu valgum, rickets, short stature, increased renal phosphate excretion, decreased serum phosphorus level, elevated serum alkaline

Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones.

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Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the TRPV4 gene. We describe a 28-month-old boy with knock-knees referred for metabolic investigation suspected of carrying vitamin D-resistant rickets. He has received regular vitamin D

Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone.

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A young girl had tibial osteotomies at age 14 for genu valgum and then had recurrent tibial cysts over a number of years. Hypocalcemia and hyperphosphatemia were first noted at age 21. The diagnosis of pseudohypoparathyroidism was made at age 28, when elevated plasma PTH was detected. Clinical and

Slipped Capital Femoral Epiphysis in Primary Hyperparathyroidism - Case Report with Literature Review.

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Primary hyperparathyroidism is not common in children and adolescents. Association of slipped capital femoral epiphysis and hyperparathyroidism is rare. We report the case of a 15-year-old boy who presented with pain in both hips and limping. He was diagnosed to have bilateral slipped capital

Skeletal and dental fluorosis: two case reports.

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Two case reports from a high fluoride (10 ppm) rural community. They presented with severe degrees of dental fluorosis, hyper-sensitivity of teeth and skeletal fluorosis all arising from the ingestion of high amount of fluoride in water over a long period of time. Both cases had deformities of the

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