Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 205,489,298 papers from all fields of science
Search
Sign In
Create Free Account
Spondyloperipheral dysplasia short ulna
Known as:
Familial spondyloepiphyseal dysplasia
, Spondyloperipheral Dysplasia With Short Ulna
, Spondyloperipheral dysplasia
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
7 relations
Autosomal dominant inheritance
Broad palm
Congenital pectus carinatum
Kyphosis deformity of spine
Expand
Broader (1)
Osteochondrodysplasias
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation
J. Désir
,
M. Cassart
,
C. Donner
,
P. Coucke
,
M. Abramowicz
,
G. Mortier
American journal of medical genetics. Part A
2012
Corpus ID: 205315819
We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD‐T), a rare skeletal dysplasia…
Expand
2011
2011
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
M. Bedeschi
,
V. Bianchi
,
+8 authors
F. Lalatta
Orphanet journal of rare diseases
2011
Corpus ID: 16198727
It is not unusual for patients with "rare" conditions, such as skeletal dysplasias, to remain undiagnosed until adulthood. In…
Expand
2007
2007
Czech dysplasia metatarsal type: another type II collagen disorder
K. Hoornaert
,
I. Mařík
,
+6 authors
G. Mortier
European Journal of Human Genetics
2007
Corpus ID: 18638276
Czech dysplasia metatarsal type is an autosomal-dominant disorder characterized by an early-onset, progressive…
Expand
2004
2004
Spondyloperipheral dysplasia is caused by truncating mutations in the C‐propeptide of COL2A1
A. Zankl
,
B. Zabel
,
+7 authors
A. Superti-Furga
American journal of medical genetics. Part A
2004
Corpus ID: 22472125
The term “spondyloperipheral dysplasia” (SPD) has been applied to the unusual combination of platyspondyly and brachydactyly as…
Expand
2003
2003
Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects
G. Nishimura
,
R. Kizu
,
+8 authors
T. Hasegawa
American journal of medical genetics. Part A
2003
Corpus ID: 39124422
Spondyloepiphyseal dysplasia (SED) Maroteaux type is an autosomal dominant skeletal dysplasia, characterized by spondylar…
Expand
Review
2001
Review
2001
[Spondyloperipheral dysplasia].
G. Nishimura
Ryoikibetsu shokogun shirizu
2001
Corpus ID: 35325094
Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the…
Expand
2001
2001
A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly
H. Kitoh
,
R. Lachman
Pediatric Radiology
2001
Corpus ID: 22215555
Abstract We report the case of a 9-year-old Japanese boy with spondyloperipheral skeletal dysplasia associated with facial…
Expand
1996
1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.
B. Zabel
,
K. Hilbert
,
H. Stöss
,
A. Superti-Furga
,
J. Spranger
,
A. Winterpacht
American journal of medical genetics
1996
Corpus ID: 21115247
We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and…
Expand
1995
1995
Spondyloperipheral dysplasia.
G. Sorge
,
M. Ruggieri
,
R. Lachman
American journal of medical genetics
1995
Corpus ID: 30468186
We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body…
Expand
1977
1977
An unusual familial spondyloepiphyseal dysplasia: "spondyloperipheral dysplasia".
T. Kelly
,
J. Lichtenstein
,
J. Dorst
Birth defects original article series
1977
Corpus ID: 46728820
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
,
Terms of Service
, and
Dataset License
ACCEPT & CONTINUE