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Congenital hypoplasia of clavicle

Known as: CLAVICULAR HYPOPLASIA, Short clavicles, Hypoplasia of clavicle 
Reduced length of the clavicles. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

12 relations
BENT BONE DYSPLASIA SYNDROMECDAGS SYNDROMECleidocranial DysplasiaMANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Patients with isolated oligo/hypodontia caused by RUNX2 duplication
Loss‐of‐function mutations of RUNX2 are responsible for cleidocranial dysplasia, an autosomal dominant disorder characterized by… 
2014
2014
Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern
Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular… 
2013
2013
Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family.
Cleidocranial dysplasia syndrome (CCD) is a rare autosomal dominant disease with wide range of variability. Dentists are often… 
2010
2010
Cleidocranial dysplasia: a dilemma in diagnosis?
Abstract Cleidocranial dysplasia is a developmental anomaly and is characterized by craniofacial and skeletal malformations as… 
2003
2003
Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations.
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
We report on a ‘new’ lethal familial short‐limb bone dysplasia associated with multiple anomalies in three sibs born to Arabic… 
1998
1998
Cleidocranial dysplasia: a rare case associated with congenital hypothyroidism and severe neonatal hyperbilirubinemia.
Cleidocranial dysplasia is an autosomal dominant disorder affecting skeletal ossification and tooth development. This disorder… 
1996
1996
Cleidocranial dysplasia and syringomyelia. Case report.
cleidocranial dysplasia (CCD) is a dysmorphic syndrome characterized by delayed ossification of the cranial sutures, clavicular… 
1996
1996
Lethal neonatal mandibuloacral dysplasia.
We report on a case of lethal neonatal mandibuloacral dysplasia. Large confluent fontanelles, sparse fine hair and eyebrows… 
1991
1991
Hypoplastic Clavicles and Lateral Scapular Redirection
Summary: Three patients with bilateral hypoplastic clavicles and anterolateral displacement of the shoulders and scapulas on the… 
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