FAQ

SPONDYLOCOSTAL DYSOSTOSIS 5

Known as: COSTOVERTEBRAL SEGMENTATION ANOMALIES, SPONDYLOTHORACIC DYSOSTOSIS, SPONDYLOCOSTAL DYSPLASIA 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1984-2015
012319842015

Related topics

Related topics

7 relations
Abnormality of the ribsAutosomal dominant inheritanceAutosomal recessive inheritanceHemivertebrae
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
SPONDYLOCOSTAL DYSOSTOSIS 5
Autosomal dominant inheritance
Autosomal recessive inheritance
Scoliosis, unspecified
Jarcho-Levin syndrome
Hemivertebrae

Papers overview

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2010
2010
Vertical expandable prosthetic titanium rib as treatment of thoracic insufficiency syndrome in spondylocostal dysplasia.
BACKGROUND Spondylocostal dysplasia (SCD) constitutes a heterogeneous patient group with multiple vertebral formations and… (More)
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2004
2004
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.
Spondylothoracic dysplasia (STD, MIM#277300) is an autosomal recessive disorder with high prevalence in the Puerto Rican… (More)
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Highly Cited
2002
Highly Cited
2002
Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm.
A loss-of-function mutation in the mouse delta-like3 (Dll3) gene has been generated following gene targeting, and results in… (More)
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2002
2002
Diverse requirements for Notch signalling in mammals.
The Notch signalling pathway has a central role in a wide variety of developmental processes and it is not therefore surprising… (More)
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2000
2000
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.
We report on a four-generation inbred family including 10 individuals affected with a form of craniotubular dysplasia (CTD). All… (More)
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1997
1997
Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.
Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems… (More)
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1996
1996
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report.
 
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1996
1996
Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin.
A 13-day-old, preterm, male infant was referred for respiratory distress syndrome (RDS) and jaundice. His twin sister had died of… (More)
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1994
1994
Another case of spondylocostal dysplasia and severe anomalies: a diagnostic and counseling dilemma.
 
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1988
1988
Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome).
We report the first prenatal identification using ultrasound of a fetus affected with spondylocostal dysplasia type I, or Jarcho… (More)
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