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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.
2017
2017
Disostose cleidocraniana: relato de caso
Tayane Vicenço Marcon
2017
Corpus ID: 201995472
Cleidocranial dysostosis (CCD) is a rare congenital bone disorder with an autosomal dominant genetic pattern, which has a…
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2017
2017
A novel frameshift mutation in the NMTS domain of RUNX2 in a Chinese family with cleidocranial dysplasia
Ting Chen
,
L. Peng
,
+8 authors
Bu-Ling Wu
2017
Corpus ID: 7624909
Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disorder, caused by heterozygous mutations of Runx2…
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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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2015
2015
Familial cleidocranial dysplasia misdiagnosed as rickets over three generations
R. Franceschi
,
Evelina Maines
,
+5 authors
Annunziata Di Palma
Pediatrics International
2015
Corpus ID: 19719013
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, late…
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2013
2013
Figure 2. [Chest x-ray demonstrates clavicular hypoplasia.].
R. Mendoza-Londono
,
Brendan H. Lee
2013
Corpus ID: 79023183
2013
2013
Figure 1. [Shoulders in an individual with clavicular hypoplasia may be brought to the midline.].
R. Mendoza-Londono
,
Brendan H. Lee
2013
Corpus ID: 151442106
2011
2011
Anaesthetic Management of a Primigravida Patient with Cleidocranial Dysplasia Undergoing Caesarean Section
Y. W. Li
,
Garud Chandan
2011
Corpus ID: 12702080
231 Anaesthetic Management of a Primigravida Patient with Cleidocranial Dysplasia Undergoing Caesarean Section Abstract Type…
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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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2006
2006
Mandibuloacral Dysplasia in An Iranian Girl
Fahime Abbasi
,
N. Parvaneh
,
F. Mostafavi
,
M. Mehdizadeh
,
S. Shiva
,
A. Rabbani
2006
Corpus ID: 10518960
andibuloacral dysplasia [MIM 248370(Mendelian Inheritance in Man)] is a rare autosomal recessive disorder characterized by…
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2004
2004
Dysplasia cleido-facialis
K. Kozlowski
,
M. Hanicka
,
H. Zygulska-Machowa
Zeitschrift für Kinderheilkunde
2004
Corpus ID: 20701077
Two sisters 8 and 5 years old with unusual head, specifically face changes and clavicular hypoplasia are described. The authors…
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