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SPONDYLOCOSTAL DYSOSTOSIS 5

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

Related topics

Related topics

9 relations
Abnormality of the ribsAutosomal dominant inheritanceAutosomal recessive inheritanceHemivertebrae
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… Expand
Highly Cited
2004
Highly Cited
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… Expand
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… Expand
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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… Expand
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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… Expand
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1998
1998
Jarcho‐Levin syndrome: two consecutive pregnancies in a Puerto Rican couple
  • G. Wong, D. Levine
  • Ultrasound in obstetrics & gynecology : the…
  • 1998
    • Corpus ID: 28065496
This report describes two consecutive pregnancies in a Puerto Rican woman that were complicated by the autosomal recessive form… Expand
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… Expand
1996
1996
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report.
 
1992
1992
Decision making in the context of genetic risk: the use of scenarios.
 
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… Expand
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