genu varum/phosphatase

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Association between leg bowing and serum alkaline phosphatase level regardless of the presence of a radiographic growth plate abnormality in pediatric patients with genu varum.

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When children around 2 years of age show leg bowing and diseases are ruled out based on radiographic findings without conducting blood tests, they are classified as "physiologic" genu varum. Since whether or not physiologic genu varum is associated with bone metabolism is unclear, this study was

A Case of Vitamin D Deficiency without Elevation of Serum Alkaline Phosphatase in a Carrier of Hypophosphatasia.

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Elevated serum alkaline phosphatase (ALP) is a screening marker for the diagnosis of vitamin D deficiency, which may fail to be diagnosed if serum ALP is not elevated. Here, we describe a case of vitamin D deficiency without elevation of serum ALP. A 1-year-old Japanese girl was referred to our

Biochemical observations in Blount's disease (infantile tibia vara).

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Blount's disease or congenital tibia vara is a clinical entity characterized by tibia bowing, tibia torsion, and beaking of the medial tibia metaphysis on plain radiograph. In our environment, burnt-out rickets patients with biochemical and radiological diagnosis of rickets who after treatment still

Clinical responses to a mega-dose of vitamin D3 in infants and toddlers with vitamin D deficiency rickets.

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OBJECTIVE Was to investigate the effect of treatment with an IM injection, a mega dose of vitamin D3 (10,000 IU/kg) on the clinical, biochemical and radiological parameters of 40 rachitic children with vitamin D deficiency (VDD) over a period of 3 months. METHODS In this prospective study we

Severe nutritional deficiencies in toddlers resulting from health food milk alternatives.

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It is widely appreciated that health food beverages are not appropriate for infants. Because of continued growth, children beyond infancy remain susceptible to nutritional disorders. We report on 2 cases of severe nutritional deficiency caused by consumption of health food beverages. In both cases,

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

Physiologic Leg Bowing is not a Physiologic Condition but Instead is Associated with Vitamin D Disorders in Toddlers.

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When children around 2-year-old show leg bowing without lower-limb radiographic abnormalities for rickets, the leg bowing is classified as "physiologic" genu varum without conducting a blood test. However, it has recently been suggested that toddlers who are diagnosed with physiologic genu

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

Tumor-induced rickets in a child with a central giant cell granuloma: a case report.

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Tumor-induced osteomalacia/rickets is a rare paraneoplastic disorder associated with a tumor-producing fibroblast growth factor 23 (FGF23). We present a child with symptoms of rickets as the first clinical sign of a central giant cell granuloma (CGCG) with high serum levels of FGF23, a hormone

[Rickets-like genetic diseases].

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This paper summarizes the clinical features, causative genes and treatment progress of patients with rickets-like genetic diseases, including X-linked hypophosphatemic rickets (XLH), hypophosphatasia, achondroplasia, vitamin D-dependent rickets, pycnodysostosis and ectodermal dysplasia, who visited

Two cases of rickets presenting with poor growth, hypotonia, and respiratory problems.

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Rickets is a rare disease in developed countries. In children, it is a disease which affects growing bone. Depending on the severity, it can present with a wide variety of symptoms. Because it is such a rare disease in developed countries, symptoms suggesting rickets are often not easily recognized.

[Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family].

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In this report we describe different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets (ADHR) in 4 members of the same family as well as the treatment used in these patients and their response to it. Patient No 1: a 60 year old female who consulted for bone pain: Bone

Blount's disease: a lesser known cause of bowlegs mandating early differentiation from physiological bowing.

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We present a 16-month-old child, with progressively increasing bowing of legs, having a normal serum calcium, phosphorus and alkaline phosphatase level; lower limb radiographs revealed bilateral medial tibial metaphyseal beaking. Based on these findings, a diagnosis of Blount's disease (infantile

Asfotase alfa treatment for 1 year in a 16 year-old male with severe childhood hypophosphatasia.

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We describe the clinical outcome of asfotase alfa therapy in a 16-year-old boy with severe childhood hypophosphatasia (HPP), who began therapy at age 15 years. The patient was diagnosed with HPP at age 2 years when he presented with genu varum and premature loss of primary teeth. He had a history of

Vitamin D Status in Blount Disease.

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BACKGROUND Blount disease can be defined as idiopathic proximal tibial vara. Several etiologies including the mechanical theory have been described. Obesity is the only causative factor proven to be associated with Blount disease. The aim of this study is to assess if there is an association of

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