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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.
Review
2019
Review
2019
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.
I. Panigrahi
,
S. Angurana
,
+5 authors
N. Khandelwal
Clinical Dysmorphology
2019
Corpus ID: 85563572
Disorders associated with multiple vertebral segmentation defects may have additional rib anomalies in form of absence or…
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2008
2008
Spondylocarpotarsal synostosis: Long‐term follow‐up of a case due to FLNB mutations
N. Brunetti‐Pierri
,
V. Esposito
,
+4 authors
M. Salerno
American Journal of Medical Genetics. Part A
2008
Corpus ID: 31320641
To the Editor: Spondylocarpotarsal synostosis (SCT) syndrome (OMIM #272460), also known as congenital synspondylism, is a rare…
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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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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
1996
1996
Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin.
F. Ozkinay
,
M. Akısü
,
R. Oral
,
N. Tansuğ
,
R. Ozyürek
,
N. Kültürsay
Turkish Journal of Pediatrics
1996
Corpus ID: 20016959
A 13-day-old, preterm, male infant was referred for respiratory distress syndrome (RDS) and jaundice. His twin sister had died of…
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1994
1994
Another case of spondylocostal dysplasia and severe anomalies: a diagnostic and counseling dilemma.
A. Sharma
,
S. Phadke
American journal of medical genetics
1994
Corpus ID: 32283971
1993
1993
Another case of spondylocostal dysplasia and severe anomalies.
A. Lin
,
G. Harster
American journal of medical genetics
1993
Corpus ID: 33197760
1992
1992
Spondylothoracic dysplasia (Jarcho‐Levin syndrome) in a Chinese baby
N. Ho
Journal of Paediatrics and Child Health
1992
Corpus ID: 43835352
Abstract Spondylothoracic dysplasia (STD) syndrome or the Jarcho‐Levin syndrome has been seen commonly in Puerto Ricans. A case…
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1990
1990
Sporadic occurrence of spondylocostal dysplasia and mesocardia in a Japanese girl.
T. Ohzeki
,
M. Shiraishi
,
+7 authors
T. Hoshika
American journal of medical genetics
1990
Corpus ID: 38648812
1981
1981
Spondylo-costal dysplasia--severe and moderate types (report of 8 cases).
K. Kozłowski
Australasian Radiology
1981
Corpus ID: 42783804
SUMMARY Eight cases of spondylo-costal dysplasia, three of severe and five of moderate types are described. In the author's…
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