Intraparenchymal hemorrhage in a neonate with cleidocranial dysplasia

2021 ◽  
Author(s):  
Yuya Nakano ◽  
Akio Ebata ◽  
Daishiro Yamaoka ◽  
Ayako Ochi ◽  
Katsumi Mizuno
Keyword(s):  
Cleidocranial Dysplasia ◽  
Intraparenchymal Hemorrhage

Cleidocranial dysplasia: radiological appearances on dental panoramic radiography

1999 ◽  
Vol 28 (2) ◽  
pp. 89-97 ◽  
Author(s):  
C M McNamara ◽  
B C O'Riordan ◽  
M Blake ◽  
J R Sandy
Keyword(s):  
Panoramic Radiography ◽  
Cleidocranial Dysplasia

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

2016 ◽  
Author(s):  
Cong Zhang ◽  
Yan Jiang ◽  
Xiaoping Xing ◽  
Mei Li ◽  
Ou Wang ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Novel Mutations

Use of gelatin hemostatic matrices in patients with intraparenchymal hemorrhage and drug-induced coagulopathy

2020 ◽  
Vol 63 (6) ◽  
Author(s):  
Jacopo Del Verme ◽  
Carlo Conti ◽  
Franco Guida
Keyword(s):  
Intraparenchymal Hemorrhage ◽  
Drug Induced

Cleidocranial dysplasia – clinical and diagnostic considerations in two brothers

Medic ro ◽  
2019 ◽  
Vol 3 (129) ◽  
pp. 14
Author(s):  
Larisia Mihai ◽  
Cristina Mihai ◽  
Adriana Bălaşa ◽  
Adina  Ungureanu ◽  
Sergiu Chirila ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia

scholarly journals Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Gilyazetdinov Kamil ◽  
Ju Young Yoon ◽  
Sukdong Yoo ◽  
Chong Kun Cheon
Keyword(s):  
Short Stature ◽  
Exome Sequencing ◽  
Developmental Delay ◽  
Large Scale ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Connective Tissue Diseases ◽  
Cleidocranial Dysplasia ◽  
Facial Features ◽  
Targeted Exome Sequencing

Abstract Background Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causing mutations in a cohort of Korean patients with suspected syndromic SS by targeted exome sequencing (TES). Methods Thirty-four patients in South Korea with suspected syndromic disorders based on abnormal growth and dysmorphic facial features, developmental delay, or accompanying anomalies were enrolled in 2018–2020 and evaluated by TES. Results For 17 of 34 patients with suspected syndromic SS, a genetic diagnosis was obtained by TES. The mean SDS values for height, IGF-1, and IGFBP-3 for these 17 patients were − 3.27 ± 1.25, − 0.42 ± 1.15, and 0.36 ± 1.31, respectively. Most patients displayed distinct facial features (16/17) and developmental delay or intellectual disability (12/17). In 17 patients, 19 genetic variants were identified, including 13 novel heterozygous variants, associated with 15 different genetic diseases, including many inherited rare skeletal disorders and connective tissue diseases (e.g., cleidocranial dysplasia, Hajdu–Cheney syndrome, Sheldon–Hall, acromesomelic dysplasia Maroteaux type, and microcephalic osteodysplastic primordial dwarfism type II). After re-classification by clinical reassessment, including family member testing and segregation studies, 42.1% of variants were pathogenic, 42.1% were likely pathogenic variant, and 15.7% were variants of uncertain significance. Ultra-rare diseases accounted for 12 out of 15 genetic diseases (80%). Conclusions A high positive result from genetic testing suggests that TES may be an effective diagnostic approach for patients with syndromic SS, with implications for genetic counseling. These results expand the mutation spectrum for rare genetic diseases related to SS in Korea.

Teeth Impaction and Structural Teeth Anomalies

2020 ◽  
Vol 24 (05) ◽  
pp. 523-534
Author(s):  
Danisia Haba ◽  
Yllka Decolli ◽  
Emilia Marciuc ◽  
Ana Elena Sîrghe
Keyword(s):  
Root Resorption ◽  
Imaging Modality ◽  
Cleidocranial Dysplasia ◽  
Dental Anomalies ◽  
Marginal Bone Loss ◽  
Systematic Analysis ◽  
External Root Resorption ◽  
Adjacent Structures ◽  
Precise Diagnosis ◽  
Characteristic Features

AbstractDentists and oral and maxillofacial radiologists have used periapical, occlusal, panoramic, and cephalometric radiographs for many years for diagnosing dental anomalies, especially before orthodontic or surgical treatment. Cone beam computed tomography was developed in recent years especially for the dental and maxillofacial region. Thus it has become the imaging modality of choice for many clinical situations, such as the assessment of dental impaction and structural teeth anomalies or other associated diseases and disorders (e.g., Gardner's syndrome, cleidocranial dysplasia). This article reviews different aspects of dental impaction and its possible effects on adjacent structures such as external root resorption, marginal bone loss, as well as describing structural dental anomalies. It provides a systematic analysis of their characteristic features and imaging findings for general radiologists to achieve a precise diagnosis and an optimal interpretation.

The staged approach to the treatment of patients with cleidocranial dysplasia: A case series

2017 ◽  
Vol 55 (10) ◽  
pp. e108-e109
Author(s):  
Dipesh Patel ◽  
Nishma Patel ◽  
Jerry Kwok ◽  
Martyn Cobourne
Keyword(s):  
Case Series ◽  
Cleidocranial Dysplasia ◽  
Staged Approach

Progressive Development of Supernumerary Teeth in Cleidocranial Dysplasia

1989 ◽  
Vol 16 (2) ◽  
pp. 103-106 ◽  
Author(s):  
K. Frame ◽  
R. I. W. Evans
Keyword(s):  
Treatment Period ◽  
Permanent Teeth ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Progressive Development ◽  
The Future

A 9-year-old boy suffering from cleidocranial dysplasia presented with multiple unerupted permanent teeth and five unerupted supernumerary teeth. During a 4-year observation and treatment period he developed nine more supernumerary teeth at a time when normally new teeth would no longer be forming. By the age of 13 years and 5 months a total of fourteen supernumerary teeth had been produced and it is possible that more teeth may develop in the future.

Titanium screw anchorage for traction of many impacted teeth in a patient with cleidocranial dysplasia

2007 ◽  
Vol 131 (5) ◽  
pp. 666-669 ◽  
Author(s):  
Shingo Kuroda ◽  
Takeshi Yanagita ◽  
Hee-Moon Kyung ◽  
Teruko Takano-Yamamoto
Keyword(s):  
Cleidocranial Dysplasia ◽  
Impacted Teeth ◽  
Titanium Screw

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia

2015 ◽  
Vol 57 (9) ◽  
pp. 2189-2191 ◽  
Author(s):  
Michele Callea ◽  
Emanuele Bellacchio ◽  
Fabiana Fattori ◽  
Enrico Bertini ◽  
Francesco Callea ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Cleidocranial Dysplasia ◽  
Acute Myeloid
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