Orthopaedic manifestations of achondroplasia

Ward, Jennifer; Gargan, Alice; Smithson, Sarah; Atherton, Guy

doi:10.1016/j.mporth.2013.02.009

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…La mayoría presenta deformidades de distinta magnitud en los huesos largos. La relación de longitud, entre los segmentos proximal y distal de las extremidades también suele estar alterada (12)(13)(14). Finalmente, la densidad mineral ósea también puede ser anormal: desde huesos muy frágiles (osteogénesis imperfecta) hasta huesos extremadamente duros (piknodisostosis o meloreostosis) (15,16).…”

Section: Consideraciones Anatómicasunclassified

Manejo de Displasias Esqueléticas

Unanue

Moënne

Baar

2015

Revista Médica Clínica Las Condes

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The skeletal dysplasias are a heterogeneous group of diseases characterized primarily by impaired primary bone and/or cartilage development. The incidence of many of these entities is unknown; an overall incidence of 1 in 4,000 live births is estimated. Clinically, we must suspect the presence of a skeletal dysplasia in patients with prenatal growth restriction or childhood with short stature, especially in the presence of body disproportion. The radiological study is essential to confirm the bone condition so to try approach an accurate diagnosis, and skilled experts are required. Today we have the possibility to confirm the diagnosis by molecular studies, and we know that molecular alterations in FGFR3, COL2 1 and SHOX genes account for the most frequent cases that we will observe in our clinical practice. In recent years the increased diagnostic accuracy has been accompanied by major therapeutic opportunities. The development of new surgical techniques in bone deformity management and less invasive enlargement techniques have certainly improved the final height, but above all, in the quality of life of our patients.

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