Displasia epifisaria multipla

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Displasia epifisaria multipla
Malattia rara
Cod. esenz. SSNRNG060
Specialitàgenetica clinica
Classificazione e risorse esterne (EN)
OMIM226900
eMedicine1259038
GeneReviewsPanoramica e Panoramica
Modifica dati su Wikidata · Manuale

Per displasia epifisaria multipla in campo medico, si intende un insieme di disordini muscolo-scheletrici.

Sintomatologia

Fra i sintomi e i segni clinici ritroviamo ritardo di ossificazione o compromissione delle ossa carpali e della colonna vertebrale. Si evidenzia inoltre bassa statura del soggetto, può svilupparsi la malattia di Legg-Perthes.

Tipologia

Due sono le forme di displasia epifisaria multipla:[1]

  • Displasia di Fairbank o forma intensa, con piccole epifisi compromesse
  • Displasia di Ribbing o forma moderata, in cui le epifisi sono appiattite

Eziologia

La causa è un'anomalia genetica, che varia a seconda della gravità (ovvero nelle due forme) il gene COMP o il COL9A2.

Personaggi famosi affetti da questa condizione

Note

  1. ^ (ES) E. Calabuig Muñoz; M L Muñoz Guillén; J L. Valero Sanz; J J. García Borrás. Displasia Epifisaria Multiple Familiar. Revista Española de Enfermedades Metabólicas Óseas, vol. 12 nº 4 p 78-79, luglio 2003.
  2. ^ Mark Jenkins, For Richer And For Poorer, But What Of That Vanishing Middle?, su NPR, 26 settembre 2013. URL consultato il 5 ottobre 2015.
  3. ^ Pat Joseph, Lights, Camera, Economics Robert Reich brings his message to the big screen., su Berkeley, 10 settembre 2013. URL consultato il 5 ottobre 2015.
  4. ^ Mark Leibovitch, The True Measure of a Man, in The Washington Post, 14 marzo 2002. URL consultato l'8 novembre 2008 (archiviato dall'url originale il 23 aprile 2003).
  5. ^ David Wetherill Q & A, in Channel 4 Athlete Bio, 16 agosto 2012. URL consultato il 28 ottobre 2012.
  6. ^ Official Website | David Wetherill Story, su superweth.com. URL consultato il 9 marzo 2016 (archiviato dall'url originale il 9 marzo 2016).

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