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

Topic mentions per year

Topic mentions per year

1976-2017
024619762017

Papers overview

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2014
2014
Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by… (More)
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2011
2011
BACKGROUND Mutations in the SHOX gene are responsible for Leri-Weill Dyschondrosteosis, a disorder characterised by mesomelic… (More)
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2010
2010
Mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type is a rare autosomal… (More)
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2010
2010
We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic… (More)
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2007
2007
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and… (More)
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2005
2005
Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb… (More)
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1993
1993
The oral-facial-digital (OFD) syndromes constitute a heterogeneous group of entities usually associated with certain features… (More)
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1990
1990
We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic… (More)
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1984
1984
Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial… (More)
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1978
1978
Two sibs of a consanguineous mating are described. Both have a gross costovertebral segmentation defect affecting nearly all the… (More)
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