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Congenital hypoplasia of clavicle
Known as:
CLAVICULAR HYPOPLASIA
, Short clavicles
, Hypoplasia of clavicle
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Reduced length of the clavicles. [HPO:probinson]
National Institutes of Health
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Related topics
Related topics
12 relations
BENT BONE DYSPLASIA SYNDROME
CDAGS SYNDROME
Cleidocranial Dysplasia
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Patients with isolated oligo/hypodontia caused by RUNX2 duplication
A. Molin
,
S. Lopez-Cazaux
,
Olivier Pichon
,
M. Vincent
,
B. Isidor
,
C. Le Caignec
American Journal of Medical Genetics. Part A
2015
Corpus ID: 22903788
Loss‐of‐function mutations of RUNX2 are responsible for cleidocranial dysplasia, an autosomal dominant disorder characterized by…
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2014
2014
Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern
Puneet Bhargava
,
Saba Khan
,
Rohit Sharma
,
S. Bhargava
Annals of Medical and Health Sciences Research
2014
Corpus ID: 27386578
Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular…
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2013
2013
Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family.
Sheng-guo Wang
,
Shu Zhang
,
Yanmin Wang
,
Yang-xi Chen
,
Li Zhou
International Journal of Clinical and…
2013
Corpus ID: 9969903
Cleidocranial dysplasia syndrome (CCD) is a rare autosomal dominant disease with wide range of variability. Dentists are often…
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2010
2010
Cleidocranial dysplasia: a dilemma in diagnosis?
P. Verma
,
K. Verma
,
S. Gupta
2010
Corpus ID: 26423765
Abstract Cleidocranial dysplasia is a developmental anomaly and is characterized by craniofacial and skeletal malformations as…
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2003
2003
Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations.
Taketoshi Yoshida
,
H. Kanegane
,
+4 authors
K. Shigesada
Blood Cells, Molecules & Diseases
2003
Corpus ID: 43508350
2002
2002
Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome
R. Sharony
,
D. Kidron
,
A. Amiel
,
M. Fejgin
,
ZU Borochowitz
Clinical Genetics
2002
Corpus ID: 42750133
We report on a ‘new’ lethal familial short‐limb bone dysplasia associated with multiple anomalies in three sibs born to Arabic…
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1998
1998
Cleidocranial dysplasia: a rare case associated with congenital hypothyroidism and severe neonatal hyperbilirubinemia.
Bai-Hsiun Chen
,
Liang‐Yu Chen
,
Twei-Hsiun Jaw
,
M. Chao
Kaohsiung Journal of Medical Sciences
1998
Corpus ID: 10905722
Cleidocranial dysplasia is an autosomal dominant disorder affecting skeletal ossification and tooth development. This disorder…
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1996
1996
Cleidocranial dysplasia and syringomyelia. Case report.
R. Vari
,
Alfredo Puca
,
Mario Meglio
Journal of Neurosurgical Sciences
1996
Corpus ID: 38569078
cleidocranial dysplasia (CCD) is a dysmorphic syndrome characterized by delayed ossification of the cranial sutures, clavicular…
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1996
1996
Lethal neonatal mandibuloacral dysplasia.
M. Seftel
,
C. A. Wright
,
P. Po
,
T. de Ravel
American journal of medical genetics
1996
Corpus ID: 12616782
We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows…
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1991
1991
Hypoplastic Clavicles and Lateral Scapular Redirection
K. Guidera
,
D. P. Grogan
,
L. Pugh
,
J. Ogden
Journal of pediatric orthopedics
1991
Corpus ID: 35460882
Summary: Three patients with bilateral hypoplastic clavicles and anterolateral displacement of the shoulders and scapulas on the…
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