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A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A. Isidor B, et al. Am J Med Genet A. 2013 Oct;161A(10):2645-51. doi: 10.1002/ajmg.a.36132. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956136
Both patients show normal birth length, early postnatal growth deficiency, severe short stature, flexion contractures in the hips, bowing of the legs with genu varum. Skeletal radiographies show platyspondyly and characteristic vertebral body shape wit …
Both patients show normal birth length, early postnatal growth deficiency, severe short stature, flexion contractures in the hips, bowing
In rural Tibet, the prevalence of lower limb pain, especially knee pain, is high: an observational study.
Hoy DG, Fransen M, March L, Brooks P, Durham J, Toole MJ. Hoy DG, et al. J Physiother. 2010;56(1):49-54. doi: 10.1016/s1836-9553(10)70054-0. J Physiother. 2010. PMID: 20500137 Free article.
What factors that could contribute to lower limb musculoskeletal pain are commonly present? DESIGN: Observational study using an investigator-administered questionnaire and observation walks through villages. ...On average, being female was not associated with lower …
What factors that could contribute to lower limb musculoskeletal pain are commonly present? DESIGN: Observational study using an inve …
Effects of therapy in X-linked hypophosphatemic rickets.
Verge CF, Lam A, Simpson JM, Cowell CT, Howard NJ, Silink M. Verge CF, et al. N Engl J Med. 1991 Dec 26;325(26):1843-8. doi: 10.1056/NEJM199112263252604. N Engl J Med. 1991. PMID: 1660098 Free article.
BACKGROUND: Patients with X-linked hypophosphatemic rickets, which is clinically manifested by growth failure and bowing of the legs, are usually treated with phosphate and a vitamin D preparation. ...RESULTS: Patients treated for at least two years be …
BACKGROUND: Patients with X-linked hypophosphatemic rickets, which is clinically manifested by growth failure and bowing of
Morbidity, rickets and long-bone growth in post-medieval Britain--a cross-population analysis.
Pinhasi R, Shaw P, White B, Ogden AR. Pinhasi R, et al. Ann Hum Biol. 2006 May-Jun;33(3):372-89. doi: 10.1080/03014460600707503. Ann Hum Biol. 2006. PMID: 17092873
BACKGROUND: Vitamin D deficiency rickets is associated with skeletal deformities including swollen rib junctions, bowing of the legs, and the flaring and fraying of the wrist and long-bone metaphyses. ...The observed inter-population growth vari …
BACKGROUND: Vitamin D deficiency rickets is associated with skeletal deformities including swollen rib junctions, bowing of
Craniovertebral malformation complex in a child with Weismann-Netter-Stuhl syndrome.
Al Kaissi A, Ben Chehida F, Gharbi H, Jinziri M, Safi H, Ben Ghachem M, Grill F, Varga F, Klaushofer K. Al Kaissi A, et al. J Pediatr (Rio J). 2006 May-Jun;82(3):236-9. doi: 10.2223/JPED.1489. J Pediatr (Rio J). 2006. PMID: 16773178
OBJECTIVE: Bowing of the legs is usually thrown into the basket of vitamin D deficiency rickets; therefore, a significant number of affected children can be misdiagnosed and improperly managed. ...DESCRIPTION: We report a sporadic case of a 2-year-old …
OBJECTIVE: Bowing of the legs is usually thrown into the basket of vitamin D deficiency rickets; therefore, a si …
Familial hypophosphataemic rickets: experience with 24 children from Kuwait.
Lubani MM, Khuffash FA, Reavey PC, Sharda DC, Alshab TS. Lubani MM, et al. Ann Trop Paediatr. 1990;10(4):377-81. doi: 10.1080/02724936.1990.11747461. Ann Trop Paediatr. 1990. PMID: 1708966
Their ages at the onset of the disease ranged between 10 months and 14 years (mean 6.9 yrs). Growth retardation and bowing of the legs were the most prominent features, observed in all index patients and in four of the patients diagnosed by scre …
Their ages at the onset of the disease ranged between 10 months and 14 years (mean 6.9 yrs). Growth retardation and bowing of