scholarly journals Karyotype-Phenotype Correlation in Partial Trisomies of the Short Arm of Chromosome 6: A Family Case Report and Review of the Literature

2013 ◽  
Vol 141 (4) ◽  
pp. 243-259 ◽  
Author(s):  
A. Castiglione ◽  
V. Guaran ◽  
L. Astolfi ◽  
E. Orioli ◽  
G. Zeri ◽  
...  
Keyword(s):  
Case Report ◽  
Chromosome 6 ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Family Case

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 Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature

Bone Reports ◽  
2021 ◽  
pp. 101121
Author(s):  
Shuaa Basalom ◽  
Mélissa Fiscaletti ◽  
Valancy Miranda ◽  
Céline Huber ◽  
Guillaume Couture ◽  
...  
Keyword(s):  
Case Report ◽  
Bone Fragility ◽  
Review Of The Literature ◽  
French Canadian ◽  
Family Case

Tuberculous brain abscess: A case report with a review of the literature in English

1999 ◽  
Vol 19 (3) ◽  
pp. 328-335
Author(s):  
Shanop Shuangshoti Shuangshoti ◽  
Samruay Shuangshoti
Keyword(s):  
Case Report ◽  
Brain Abscess ◽  
Review Of The Literature ◽  
Tuberculous Brain Abscess

Abstract #1038: Familial Dysalbuminemic Hyperthyroxinemia: A Case Report and Review of the Literature

2015 ◽  
Vol 21 ◽  
pp. 209-210
Author(s):  
Richa Bhattarai ◽  
Bidur Dhakal ◽  
Joseph Belsky ◽  
Nadja Pedersen ◽  
Maria Jan ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature
Sign in / Sign up

Export Citation Format

Share Document