Madelung Deformity
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Madelung Deformity
|
0.200 |
Biomarker
|
disease |
BEFREE |
SHOX haploinsufficiency usually results in mesomelic short stature and Turner skeletal features, including Madelung deformity with puberty, in subjects with normal gonadal function.
|
11134233 |
2001 |
Madelung Deformity
|
0.200 |
Biomarker
|
disease |
BEFREE |
SHOX haploinsufficiency leads to short arms in 92%, bilateral Madelung deformity in 73% and short stature in 54%.
|
14513875 |
2003 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SHOX mutations causing haploinsufficiency were reported in Leri-Weill dyschondrosteosis (LWD), which is characterized by mesomelic short stature and Madelung deformity of the wrists.
|
15356038 |
2004 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics.
|
30332396 |
2018 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.
|
22461651 |
2012 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic growth retardation and Madelung deformity in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
|
10878753 |
2000 |
Madelung Deformity
|
0.200 |
Biomarker
|
disease |
BEFREE |
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
|
11735031 |
2001 |
Madelung Deformity
|
0.200 |
Biomarker
|
disease |
BEFREE |
Defects in SHOX or its enhancers have been observed in ∼60% of Leri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia characterised by short stature and/or the characteristic Madelung deformity, and in 2-5% of idiopathic short stature (ISS).
|
22791839 |
2012 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Family studies of the children with SHOX mutations often reveal older family members with same mutation who exhibit mild skeletal features reminiscent of the Turner syndrome, such as high-arched palate, short neck, abnormal auricular development, cubitus valgus, genu valgum, short fourth metacarpals, and Madelung deformity.
|
11889216 |
2002 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS) and has recently been implicated in additional skeletal malformations frequently observed in Turner syndrome.
|
11751690 |
2001 |
Madelung Deformity
|
0.200 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist.
|
30250174 |
2018 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a case of a Hispanic male with idiopathic short stature and Madelung deformity with a novel mutation in the SHOX gene.
|
17028440 |
2007 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of SHOX have been implicated in patients with Madelung's deformity, Leri-Weill dyschondrosteosis (77%), Turner's syndrome (66%), and idiopathic short stature (3%), and homozygous mutations of SHOX gene have been identified in patients with Langer's mesomelic dysplasia (100%).
|
19724992 |
2009 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Originally described as a gene responsible for idiopathic short stature, it has become clear that SHOX mutations can also cause mesomelic short stature and Madelung deformity in Léri-Weill syndrome.
|
11408757 |
2001 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Short stature homeobox- containing (SHOX) gene defects determine a highly variable phenotype, that includes an osteochondrodysplasia with mesomelic short stature and Madelung deformity, but also presentations without evident malformations.
|
21057181 |
2010 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SSCP and partial sequencing of the SHOX gene in one patient with Madelung deformity and two SHOX alleles.
|
11874178 |
2002 |
Madelung Deformity
|
0.200 |
Biomarker
|
disease |
BEFREE |
The results suggest that GH therapy may have variable statural effects in SHOX haploinsufficiency as in most disorders including Turner syndrome, and that GnRHa therapy after pubertal entry may be insufficient to prevent the development of skeletal lesions such as Madelung deformity.
|
11523902 |
2001 |
Madelung Deformity
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The study was designed to determine the following: the prevalence of SHOX anomalies in ISS; the frequency of Madelung deformity in individuals with SHOX anomalies; and the value of a family history of short stature in deciding whether to test for the SHOX gene.
|
16597678 |
2006 |
Madelung Deformity
|
0.200 |
Biomarker
|
disease |
BEFREE |
We investigated the relationship between SHOX mutations, height deficit, and Madelung deformity to determine the contribution of SHOX haploinsufficiency to the LWD and Turner syndrome (TS) phenotypes.
|
11739418 |
2001 |