Leri-Weil syndrome

06/01/2006 - "The study included 25 patients with hypochondroplasia (HCP), 39 with dyschondrosteosis (LWD), and 71 with Turner syndrome (TS). "
02/01/2015 - "Congenital loss of the SHOX gene is considered to be a genetic cause of short stature phenotype in Turner syndrome and Leri-Weill dyschondrosteosis patients. "
03/01/2014 - "SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), Turner syndrome, and disproportionate short stature (DSS). "
12/15/2012 - "In humans, loss of SHOX gene function is responsible for the mesomelic short stature characteristic of Turner syndrome, Leri-Weill dyschondrosteosis, and Langer dysplasia. "
08/01/2012 - "SHOX haploinsufficiency is associated with a wide spectrum of conditions, all characterized growth failure such as Leri-Weill dyschondrosteosis, Turner syndrome, short stature with subtle auxological and radiological findings and the so called "idiopathic short stature" (short stature with no specific findings other than growth failure). "

10/01/1974 - "Dyschondrosteosis (mesomelic dwarfism)--a family study."
01/01/2000 - "Despite of a body height within the lower normal range in two patients the diagnosis of dyschondrosteosis could not be clearly established as further hints for dwarfism are missing. "
12/01/1999 - "Additional evidence suggests that Langer mesomelic dwarfism results from homozygous mutations at the genetic locus responsible for dyschondrosteosis."
05/01/1982 - "[Mesomelic dwarfism of the Langer type as a homozygous form of dyschondrosteosis (author's transl)]."
12/01/1977 - "The group of dysplasias in which hands and feet are concerned includes the dyschondrosteosis with shortness of hand, the acromesomelic dwarfism with impairment of phalanxes, described by Campailla and Martinelli, Nivegelt's syndrome, and the dwarfism with disorder in the vertebral segmentation, described by Robinow."

11/01/2015 - "The deformity is particularly common in Leri-Weill dyschondrosteosis, but it may also occur in isolation. "
09/01/2015 - "Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. "
12/01/2014 - "Short-stature homeobox (SHOX) gene haploinsufficiency may cause skeletal dysplasia including Léri-Weill Dyschondrosteosis (LWD), a clinical entity characterised by the triad of low height, mesomelic disproportion and Madelung's deformity of the wrist. "
07/01/2012 - "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). "
02/01/2011 - "Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of the forearm. "

01/01/1983 - "A possibly new form of familial bone dysplasia resembling dyschondrosteosis."
10/01/1971 - "Unusual dental findings in a patient with a rare bone dysplasia (dyschondrosteosis) and a chromosomal anomaly."
09/01/1965 - "DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES."
12/01/2008 - "We described the condition of the disease, clinical appearance, X-rays appearance, orthopaedic problems about Achondroplasia, Pseudoachondroplasia, Metaphyseal Chondrodysplasia (Schmid type) , Mesomelic dysplasia (Dyschondrosteosis) as a representative bone dysplasia who present a short stature with short limbs. "

04/01/2001 - "Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis."
12/01/2003 - "We describe two brothers with generalized epilepsy, attention deficits, congenital ichthyosis, and Leri-Weill dyschondrosteosis who harbor an unusual Xp; Yq translocation chromosome, resulting in a novel contiguous gene syndrome because of deletion of genes from the distal short arm of the X chromosome. "
10/01/2012 - "Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). "