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Rhizomelia

Known as: Symmetrical rhizomelic limb shortening, Rhizomelic limb shortening, Rhizomelic short limbs 
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). [HPO:probinson]
National Institutes of Health

Related topics

Related topics

28 relations
AchondroplasiaAchondroplasia, Severe, With Developmental Delay And Acanthosis NigricansAnauxetic dysplasiaAsphyxiating Thoracic Dystrophy 2

Narrower (1)

Rhizomelic dysplasia Patterson Lowry type

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.
Review
2018
Review
2018
How to Integrate Cell-Free DNA Screening With Sonographic Markers for Aneuploidy: An Update.
OBJECTIVE The sonologist detects a so-called "soft marker" during approximately 10% of routine second-trimester anatomy… 
Review
2017
Review
2017
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial… 
Review
2016
Review
2016
Achondroplasia: Really rhizomelic?
Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia is… 
Highly Cited
2010
Highly Cited
2010
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
Osteogenesis imperfecta is a heritable disorder that causes bone fragility. Mutations in type I collagen result in autosomal… 
Highly Cited
2007
Highly Cited
2007
FGF9 regulates early hypertrophic chondrocyte differentiation and skeletal vascularization in the developing stylopod.
2005
2005
Prenatal Diagnosis of Hypochondroplasia: Three-Dimensional Multislice Computed Tomography Findings and Molecular Analysis
We report the first case of sporadic hypochondroplasia diagnosed in utero by computed tomography (CT) three-dimensional (3D… 
Highly Cited
2002
Highly Cited
2002
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease.
2000
2000
Prospective ultrasound diagnosis of Pallister‐Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile
The Pallister‐Killian syndrome (PKS) represents a rare polymalformative complex characterized by a tissue‐specific mosaic… 
1988
1988
Extended laminectomy for spinal stenosis in achondroplasia.
Achondroplasia is the most common chondrodysplasia, an autosomal dominant condition with an incidence of 17–29 per million (1… 
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