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SPONDYLOCOSTAL DYSOSTOSIS 5
Known as:
COSTOVERTEBRAL SEGMENTATION ANOMALIES
, SPONDYLOTHORACIC DYSOSTOSIS
, SPONDYLOCOSTAL DYSPLASIA
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National Institutes of Health
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Related topics
Related topics
9 relations
Abnormality of the ribs
Autosomal dominant inheritance
Autosomal recessive inheritance
Hemivertebrae
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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
N. Ramírez
,
J. Flynn
,
+6 authors
R. Campbell
Journal of pediatric orthopedics
2010
Corpus ID: 205500233
Background Spondylocostal dysplasia (SCD) constitutes a heterogeneous patient group with multiple vertebral formations and…
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Highly Cited
2004
Highly Cited
2004
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases
A. Cornier
,
N. Ramírez
,
+4 authors
B. Korf
American Journal of Medical Genetics. Part A
2004
Corpus ID: 25629794
Spondylothoracic dysplasia (STD, MIM#277300) is an autosomal recessive disorder with high prevalence in the Puerto Rican…
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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.
S. Dunwoodie
,
M. Clements
,
D. Sparrow
,
Xin Sa
,
R. A. Conlon
,
R. Beddington
Development
2002
Corpus ID: 7550276
A loss-of-function mutation in the mouse delta-like3 (Dll3) gene has been generated following gene targeting, and results in…
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2002
2002
Diverse requirements for Notch signalling in mammals.
D. Sparrow
,
M. Clements
,
+6 authors
S. Dunwoodie
International Journal of Developmental Biology
2002
Corpus ID: 25064517
The Notch signalling pathway has a central role in a wide variety of developmental processes and it is not therefore surprising…
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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.
P. Iughetti
,
L. Alonso
,
W. Wilcox
,
N. Alonso
,
M. Passos-Bueno
American journal of medical genetics
2000
Corpus ID: 3369
We report on a four-generation inbred family including 10 individuals affected with a form of craniotubular dysplasia (CTD). All…
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1998
1998
Jarcho‐Levin syndrome: two consecutive pregnancies in a Puerto Rican couple
G. Wong
,
D. 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…
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1997
1997
Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.
S. Dowton
,
A. Hing
,
V. Sheen-Kaniecki
,
M. Watson
Journal of Medical Genetics
1997
Corpus ID: 12924624
Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems…
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1996
1996
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report.
P. Aurora
,
C. Wallis
,
R. Winter
Clinical Dysmorphology
1996
Corpus ID: 27930670
1992
1992
Decision making in the context of genetic risk: the use of scenarios.
J. Huys
,
G. Evers‐Kiebooms
,
G. d'Ydewalle
Birth defects original article series
1992
Corpus ID: 31691374
1988
1988
PRENATAL FINDINGS IN A CASE OF SPONDYLOCOSTAL DYSPLASIA TYPE I (JARCHO-LEVIN SYNDROME)
R. Romero
,
A. Ghidini
,
Marthanda S. Eszvara
,
M. Seashore
,
J. Hobbins
Obstetrics and Gynecology
1988
Corpus ID: 34214008
We report the first prenatal identification using ultrasound of a fetus affected with spondylocostal dysplasia type I, or Jarcho…
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