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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

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… 
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… 
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… 
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… 
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… 
1998
1998
Jarcho‐Levin syndrome: two consecutive pregnancies in a Puerto Rican couple
  • G. WongD. Levine
  • Ultrasound in Obstetrics and Gynecology
  • 1998
  • Corpus ID: 28065496
This report describes two consecutive pregnancies in a Puerto Rican woman that were complicated by the autosomal recessive form… 
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… 
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… 
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