Der X-chromosomale familiäre Kleinwuchs ist eine pseudo-autosomal dominant vererbte Erkrankung, die auf der Haploinsuffizienz aufgrund einer Mutation in der pseudoautosomalen Region des X-Chromosoms beruht. Die Penetranz ist auch innerhalb einer Familie sehr variabel, so dass bei schwerster Ausprägung auch eine Dyschondrosteosis Leri-Weill auftreten kann.
Wachstumsstörung | |
Der Kleinwuchs ist dysproportional mit Zeichen einer Mesomelie. |
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Dysmorphie | |
Die Skelettfehlbildungen sind mesomelisch. Typisch ist die Madlung Deformität des Handgelenks. |
Kleinwuchs, SHOX-bedingt | ||||
Dyschondrosteosis Leri-Weill | ||||
Langer-Mesomelie | ||||
X-chromosomaler familiärer Kleinwuchs | ||||
SHOX | ||||
Y-chromosomaler familiärer Kleinwuchs | ||||
2. |
Benito-Sanz S et al. (2012) Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. |
3. |
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5. |
Deng HW et al. (2002) A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature. |
6. |
Binder G et al. (2003) Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. |
7. |
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8. |
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9. |
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10. |
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11. |
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12. |
Ballabio A et al. (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. |
13. |
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14. |
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15. |
Ogata T et al. (1992) Chromosomal localisation of a pseudoautosomal growth gene(s). |
16. |
Morizio E et al. (2003) Deletion of the SHOX gene in patients with short stature of unknown cause. |
17. |
Rappold GA et al. (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. |
18. |
Chen J et al. (2009) Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. |
19. |
OMIM.ORG article Omim 300582 |