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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.
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).
2010
2010
New lethal skeletal dysplasia with Dandy–Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies
We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic… 
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. 
1990
1990
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.
We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic… 
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
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