Skip to search formSkip to main contentSkip to account menu

Mesomelia

Known as: Mesomelic limb shortening, Mesomelic shortening of limbs, Symmetric mesomelic limb shortness 
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. [HPO:sdoelken]
National Institutes of Health

Related topics

Related topics

15 relations
Achondroplasia, Severe, With Developmental Delay And Acanthosis NigricansAsphyxiating Thoracic Dystrophy 2Brachydactyly type A6Ectromelia

Broader (2)

Fetal DiseasesMusculoskeletal Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
A 590 kb deletion caused by non‐allelic homologous recombination between two LINE‐1 elements in a patient with mesomelia‐synostosis syndrome
Mesomelia‐synostoses syndrome (MSS) is a rare, autosomal‐dominant, syndromal osteochondrodysplasia characterized by mesomelic… 
2011
2011
Pseudoautosomal inheritance of Léri‐Weill syndrome: what does it mean?
Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JWG, Fischer C, Jauch A, Moog U. Pseudoautosomal inheritance of… 
2010
2010
Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).
2008
2008
Clinical and radiographic delineation of odontochondrodysplasia
The association of dentinogenesis imperfecta (DI) with a distinct form of chondrodysplasia in a boy was reported by Goldblatt et… 
2005
2005
Robinow Syndrome: a case report.
We report a case with Robinow syndrome which has been rarely reported in the literature. A male newborn who had fetal face… 
2002
2002
An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.
We report on a female infant with short stature and mesomelic limb shortening, multiple congenital abnormalities, developmental… 
1993
1993
Oral‐facial‐digital syndrome with fibular aplasia: a new variant
Figuera LE, Rivas F, Cantú JM. Oral‐facial‐digital syndrome with fibular aplasia: a new variant. 
1993
1993
Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face.
We report on a male with brachydactyly, thin habitus with narrow shoulders, mesomelic shortness of the arms, long lower face with… 
1984
1984
New syndrome: renal dysplasia, mesomelia, and radiohumeral fusion.
Ce cas represente un cas d'hypoplasie radiocubitale avec d'autres malformations qui sont decrites en detail 
1980
1980
Madelung's deformity and dyschondrosteosis
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)