scholarly journals Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series

2021 ◽  
Vol 9 (12) ◽  
Author(s):  
Javier Ignacio Segovia‐Fuentes ◽  
Jorge Armando Egurrola‐Pedraza ◽  
Edgar Junior Castro‐Mendoza ◽  
Eder Cano‐Pérez ◽  
Doris Esther Gómez‐Camargo ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Familial Cases

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

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.

scholarly journals Familial Cases of Hypertrophic Pyloric Stenosis

1928 ◽  
Vol 21 (7) ◽  
pp. 1261-1262 ◽  
Author(s):  
E. A. Cockayne ◽  
A. A. Moncrieff ◽  
W. P. H. Sheldon
Keyword(s):  
Pyloric Stenosis ◽  
Hypertrophic Pyloric Stenosis ◽  
Familial Cases

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

Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis

2004 ◽  
Vol 10 (3) ◽  
pp. 266-271 ◽  
Author(s):  
B Zakrzewska-Pniewska ◽  
M Styczynska ◽  
A Podlecka ◽  
R Samocka ◽  
B Peplonska ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Apolipoprotein E ◽  
Brain Atrophy ◽  
Genetic Factors ◽  
Clinical Course ◽  
Progression Rate ◽  
Disease Course ◽  
Familial Cases ◽  
Sporadic Cases ◽  
The Relationship

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.

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.

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