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

Topic mentions per year

Topic mentions per year

1975-2017
012319752017

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
OBJECTIVE To present five new cases of prenatally diagnosed Pallister-Killian syndrome (PKS) and to propose an approach for a… (More)
Is this relevant?
2017
2017
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic… (More)
Is this relevant?
Review
2015
Review
2015
The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been… (More)
  • figure 1
Is this relevant?
Review
2014
Review
2014
Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by constitutional aneuploidies. Mutations… (More)
  • figure 1
  • table I
  • figure 2
  • figure 3
  • table II
Is this relevant?
2014
2014
We report on the natural history of a female with dominant omodysplasia, a rare osteochondrodysplasia with short stature… (More)
Is this relevant?
2008
2008
We report a newborn who presented with an unreported combination of anophthalmia, anal atresia, rhizomelia, dextrocardia and… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Osteogenesis imperfecta (OI) is a heritable disease of bone with low bone mass and bone fragility. The disease is generally… (More)
Is this relevant?
1987
1987
An anthropometric study was performed on 40 Caucasian children with familial short stature (FSS) and conpared with 40 age-, race… (More)
Is this relevant?
1978
1978
The radiological findings in five infants, with chondrodysplasia punctata, who died during the neonatal period are presented to… (More)
Is this relevant?