scholarly journals Genotype–phenotype correlation of LMNA variants involving the Arg541 residue: a case report with multimodality imaging and literature review

2020 ◽  
Vol 7 (5) ◽  
pp. 3169-3173
Author(s):  
Andrea Di Marco ◽  
María Ruiz‐Cueto ◽  
Joel Salazar‐Mendiguchía ◽  
Eduard Claver ◽  
Gerard Roura ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Multimodality Imaging ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation

2017 ◽  
Vol 173 (10) ◽  
pp. 2743-2746 ◽  
Author(s):  
Gerarda Cappuccio ◽  
Michele Pinelli ◽  
Annalaura Torella ◽  
Marianna Alagia ◽  
Renata Auricchio ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotype Correlation ◽  
Related Disorder ◽  
Genotype Phenotype Correlation

Ulerythema Ophryogenes, A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature

2013 ◽  
Vol 17 (3) ◽  
pp. 212-218 ◽  
Author(s):  
Kayi Li ◽  
Mary Ann Thomas ◽  
Richard M. Haber
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Cutaneous Manifestation ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Genetic Condition ◽  
Genotype Phenotype Correlation

Background: Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Objective: Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. Methods: We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. Results: To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. Conclusions: The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

scholarly journals Multimodality-imaging manifestations of primary renal-allograft synovial sarcoma: First case report and literature review

2019 ◽  
Vol 7 (13) ◽  
pp. 1677-1685 ◽  
Author(s):  
Rui-Fang Xu ◽  
En-Hui He ◽  
Zhan-Xiong Yi ◽  
Jun Lin ◽  
Yan-Ning Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Synovial Sarcoma ◽  
Renal Allograft ◽  
Multimodality Imaging ◽  
First Case

scholarly journals Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation

2019 ◽  
Vol 182 (1) ◽  
pp. 268-268 ◽  
Author(s):  
G. Cappuccio ◽  
M. Pinelli ◽  
A. Torella ◽  
M. Alagia ◽  
R. Auricchio ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotype Correlation ◽  
Related Disorder ◽  
Genotype Phenotype Correlation

scholarly journals Genetic bases related to the development of non-syndromic dental agenesis: a literature review

2020 ◽  
Vol 9 (11) ◽  
pp. e2449119882
Author(s):  
Iago Demétrio da Silva ◽  
Caio Cesar Santos Patron Luiz ◽  
Andressa Bolognesi Bachesk ◽  
Brenda da Silva Balassa
Keyword(s):  
Genetic Counseling ◽  
Literature Review ◽  
Epidemiologic Studies ◽  
Literature Survey ◽  
Permanent Dentition ◽  
Developmental Anomaly ◽  
Dental Development ◽  
Phenotype Correlation ◽  
Etiological Factors ◽  
Genotype Phenotype Correlation

Non-syndromic dental agenesis is characterized as the most common developmental anomaly in humans, causing the lack of one or more teeth, in deciduous or permanent dentition. Mutations in specific genes of dental development are pointed as etiological factors of this anomaly. To perform this work, two electronic databases were consulted to conduct a literature survey, including PubMed and BVS. The descriptor "Anodontia" was used in both. The articles were filtered from 2010 to 2020, including full texts, in english, portuguese and spanish. Dissertations, theses and book chapters were discarded. In PubMed, from 508 articles found, 13 were included for review. In the BVS, from 304 articles found, 07 were included for review, totaling 20 articles. Studies have shown that mutations by nucleotide subitusing and deletion were more present in genes that cause dental agenesis (PAX9, MSX1, AXIN2, WNT). In epidemiologic studies, women showed greater involvement than men, both in deciduous and permanent dentition, in a ratio of 3:2. In addition, leukoderms showed greater involvement than melanoderms. Knowledge of the genotype-phenotype correlation between mutations and dental agenesis is important for the dental surgeon, as it assists in diagnosis, genetic counseling, treatment and prognosis. 

12q Interstitial Deletion with Bilateral Cleft Lip and Palate: Case Report and Literature Review

2008 ◽  
Vol 45 (3) ◽  
pp. 325-328 ◽  
Author(s):  
Tadashi Yamanishi ◽  
Juntaro Nishio ◽  
Shigenori Miya ◽  
Nobuhiko Okamoto ◽  
Akihito Takahashi ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Growth Retardation ◽  
Cleft Lip ◽  
Gene Deletion ◽  
Cleft Lip And Palate ◽  
Interstitial Deletion ◽  
Multiple Congenital Anomalies ◽  
Phenotype Correlation ◽  
Bilateral Cleft Lip

The authors report the case of a Japanese girl with interstitial deletion of chromosome 12q15–q21.2 who had multiple congenital anomalies including bilateral cleft lip and palate (BCLP) with intrauterine onset of growth retardation and severe psychomotor developmental delay. Only two other patients with a similar deletion have been reported previously. However, these two patients showed such different clinical features that defining the karyotype-phenotype correlation has remained unfeasible. The additional case presented here reveals that two of the three cases with an overlapping deletion in 12q show the phenotype of BCLP, suggesting the correlation between this area of gene deletion and cleft lip and palate.

scholarly journals Hypoxemia and Right-to-Left-Shunt in Patient with Antiphospholipid Syndrome: A Case Report with Multimodality Imaging Findings and Literature Review

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Mnahi Bin Saeedan ◽  
Mashael Alrujaib ◽  
Ahmed L. Fathala
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Superior Vena Cava ◽  
Antiphospholipid Syndrome ◽  
Superior Vena Cava Syndrome ◽  
Multimodality Imaging ◽  
Superior Vena ◽  
Vena Cava ◽  
Imaging Findings ◽  
Vena Cava Syndrome

This is a case report of an extremely rare cause of superior vena cava syndrome with systemic-to-pulmonary venous shunts, illustrated using different imaging modalities with successful SVC and IVC dilatation and stenting.

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