genu valgum/asthenia

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Primary hyperparathyroidism masquerading as rickets: diagnostic challenge and treatment outcomes.

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Primary hyperparathyroidism (PHPT) is extremely uncommon among children and is more likely to be associated with genetic syndromes, multiglandular involvement, and more severe symptoms. Rickets can very rarely be the presenting feature of PHPT in children. Rickets was diagnosed in a 12-year-old girl

[Advanced stage of giant axonal neuropathy].

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A woman has appeared normal during her neonatal and childhood period except for a short stature. Her parents were healthy and non-consanguineous. At the age of 8, she noticed difficulty in climbing stairs and had tendency to fall. In her 13th year, she developed marked scoliosis and genu valgum.

Gait analysis and muscle strength in children with surgically treated clubfeet.

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Twenty-three children who had unilateral surgery for idiopathic clubfeet underwent gait analysis and isokinetic muscle-strength testing at an average of 10 years after surgical release. Ankle sagittal-plane kinematics were disturbed in 20 clubfeet. Fifteen children had an internal foot-progression

Gait and function after intra-articular arthrodesis of the hip in adolescents.

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BACKGROUND Patients who have had a hip arthrodesis have been reported to have pain in the back and the knee due to an altered gait. There is little information about the specific compensatory mechanisms that are adopted when walking. The purpose of this study was to objectively define gait

[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

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

PHPT Masquerading as Rickets in Children and Presenting with Rare Skeletal Manifestations: Report of Three Cases and Review of Literature.

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Primary hyperparathyroidism (PHPT) is an uncommon condition in children and adolescents. However, rapid growth spurt during puberty may result in unmasking and development of certain skeletal manifestations of PHPT. We present three cases of PHPT associated with rare skeletal manifestations of

Klinefelter's syndrome with renal tubular acidosis: impact on height.

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A 19-year-old Indian man presented with a history of proximal muscle weakness, knock knees and gynaecomastia. On examination he had features of rickets and bilateral small testes. Karyotyping revealed a chromosomal pattern of 47,XXX, confirming the diagnosis of Klinefelter's syndrome. He was also

Patellofemoral disorders and instability.

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Originally the main idea was to obtain a stable patella, i.e., to stabilize the "slipping patella". In the past many conditions like patella alta, ligamentous laxity, PF bone hypoplasia, weakness of the quadriceps muscle, genu valgum or genu recurvatum were thought to predispose to patellar

Natural history of Morquio A patient with tracheal obstruction from birth to death.

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Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.

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We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFβ1 and TNFSF11 encoding TGFβ1 and RANKL, respectively. He suffered leg pain and weakness since

Increasing incidence of nutritional rickets: a population-based study in Olmsted County, Minnesota.

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OBJECTIVE To determine temporal trends in incidence and risk factors of nutritional rickets in a community-based population. METHODS Rochester Epidemiology Project data were used to identify all children (aged <18 years) residing in Olmsted County, Minnesota, between January 1, 1970, and December

Management of the chronic irreducible patellar dislocation in total knee arthroplasty.

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Neglected dislocation of the patella with gonarthrosis, genu valgum, flexion, and external rotation deformity is rarely encountered. Experience with five total knee arthroplasties in three patients with chronic patellar dislocation and gonarthrosis is reported. All knees had a modified proximal

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