Die Langer mesomelische Dysplasie ist ein mesomeler Kleinwuchs, Radius, Ulna, Tibia und Fibula betreffend. Der Erkrankung liegen Mutationen des SHOX-Gens zugrunde, welches sich auf beiden Gonosomen befindet. Die Vererbung ist pseudo-autosomal rezessiv. Kinder können jedoch aufgrund der Haploinsuffizienz einen SHOX-bedingten Kleinwuchs oder ein Leri-Layani-Weill-Syndrom entwickeln.
Kleinwuchs, SHOX-bedingt | ||||
Dyschondrosteosis Leri-Weill | ||||
Langer-Mesomelie | ||||
SHOX | ||||
X-chromosomaler familiärer Kleinwuchs | ||||
Y-chromosomaler familiärer Kleinwuchs | ||||
1. |
Sabherwal N et al. (2004) Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome. |
3. |
Kunze J et al. (1980) Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis. |
4. |
None (1967) Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. |
5. |
Fryns JP et al. (1979) Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis. |
6. |
Goldblatt J et al. (1987) Heterozygous manifestations of Langer mesomelic dysplasia. |
7. |
Evans MI et al. (1988) Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism. |
8. |
BLOCKEY NJ et al. (1963) AN UNUSUAL SYMMETRICAL DISTAL LIMB DEFORMITY IN SIBLINGS. |
9. |
Espiritu C et al. (1975) Mesomelic dwarfism as the homozygous expression of dyschondrosteosis. |
10. |
Robertson SP et al. (2000) Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. |
11. |
Belin V et al. (1998) SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). |
12. |
Barca-Tierno V et al. (2011) Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. |
13. |
Bertorelli R et al. (2007) The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. |
14. |
Thomas NS et al. (2004) SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. |
15. |
Sabherwal N et al. (2004) A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia. |
16. |
OMIM.ORG article Omim 249700 |
17. |
Orphanet article Orphanet ID 2632 |