Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

2015 ◽  
Vol 170 (3) ◽  
pp. 766-772 ◽  
Author(s):  
Marshall I. B. Fontes ◽  
Ana P. Santos ◽  
Miriam C. Molck ◽  
Milena Simioni ◽  
Diogo L. L. Nascimento ◽  
...  
Keyword(s):  
Natural History ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
History Of

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation

Mitochondrion ◽  
2013 ◽  
Vol 13 (6) ◽  
pp. 810-816 ◽  
Author(s):  
Ewa Pronicka ◽  
Dorota Piekutowska-Abramczuk ◽  
Tamara Szymańska-Dębińska ◽  
Liliana Bielecka ◽  
Paweł Kowalski ◽  
...  
Keyword(s):  
Natural History ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
History Of

scholarly journals P.014 The natural history of third ventricle colloid cysts includes asymptomatic regression: a report of two cases and review of the literature

2017 ◽  
Vol 44 (S2) ◽  
pp. S17-S17
Author(s):  
R Bokhari ◽  
J Chankowsky ◽  
J Marcoux
Keyword(s):  
Natural History ◽  
Third Ventricle ◽  
Symptomatic Patient ◽  
Review Of The Literature ◽  
Indication For Surgery ◽  
Asymptomatic Patients ◽  
Signal Characteristics ◽  
History Of ◽  
Colloid Cysts

Background: Colloid cysts of the third ventricle are a rare entity with an unclear natural history. Although intervening in the setting of a symptomatic patient is fairly straightforward, decision-making for asymptomatic patients is not. Few studies address this question and proposed risk factors for cyst progression vary.A cyst diameter exceeding 1 cm is a common indication for surgery. This is rooted in the belief that the natural history is continued growth. A few cases have recently surfaced that suggests some cysts may spontaneously regress without complication. We describe our experience with two such cases and contrast it with those of others. Methods: We collected all cases of “colloid cysts” identified as incidental findings on Brain CT scans in a large urban center with available follow-up. We then conducted a comprehensive review of the literature. Results: Among all incidental cases from our database, none required surgery and two were found to decrease in size on neuroimaging surveillance with interesting evolution in MRI signal characteristics. These cysts remain asymptomatic at last follow up. Conclusions: The natural history of colloid cysts includes spontaneous regression. This should be mentioned in counseling asymptomatic patients.

Pleomorphic adenoma of the external auditory canal: a case report and review of the literature

1996 ◽  
Vol 110 (1) ◽  
pp. 52-56 ◽  
Author(s):  
Hidetoshi Haraguchi ◽  
Hitoshi Hentona ◽  
Hidekazu Tanaka ◽  
Atsushi Komatuzaki
Keyword(s):  
Case Report ◽  
Natural History ◽  
Pleomorphic Adenoma ◽  
Clinical Features ◽  
External Auditory Canal ◽  
World Wide ◽  
Review Of The Literature ◽  
The World ◽  
History Of ◽  
Uncommon Tumour

AbstractPleomorphic adenoma arising in the external auditory canal is rare. We report the case of a 38-year-old man. To better grasp the clinical features and natural history of this uncommon tumour, we also reviewed the world wide literature and found 24 similar cases, which we analysed together with our own.

Malignant melanoma arising in the frontal sinuses

1997 ◽  
Vol 111 (4) ◽  
pp. 376-378 ◽  
Author(s):  
Samuel M. Jayaraj ◽  
Jonathan D. Hern ◽  
George Mochloulis ◽  
Graham C. Porter
Keyword(s):  
Malignant Melanoma ◽  
Natural History ◽  
Nasal Cavity ◽  
Paranasal Sinuses ◽  
Frontal Sinus ◽  
Poor Prognosis ◽  
Review Of The Literature ◽  
History Of ◽  
Frontal Sinuses ◽  
Sinonasal Malignant Melanoma

AbstractSinonasal malignant melanoma is rare and usually occurs in the nasal cavity. Presentation is often varied and occurs late in the natural history of the disease, resulting in a poor prognosis. A case is reported of a patient with malignant melanoma arising from the frontal sinus who presented with a forehead swelling and progressive confusion. A review of the literature on malignant melanoma in the nasal cavity and paranasal sinuses regarding its presentation, site of origin and principles of management is discussed.

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.

Adult Presentation of a Familial-Associated Vein of Galen Aneurysmal Malformation: Case Report

Neurosurgery ◽  
2010 ◽  
Vol 67 (6) ◽  
pp. E1845-E1851 ◽  
Author(s):  
David S Xu ◽  
Asad A Usman ◽  
Michael C Hurley ◽  
Christopher S Eddleman ◽  
Bernard R Bendok
Keyword(s):  
Case Report ◽  
Natural History ◽  
Vein Of Galen ◽  
Review Of The Literature ◽  
Time Resolved ◽  
Presenting Symptoms ◽  
First Case ◽  
Life Threatening ◽  
History Of ◽  
Asymptomatic Adult

Abstract BACKGROUND AND IMPORTANCE: Vein of Galen aneurysmal malformations (VGAMs) arise from persistent arteriovenous shunting from primitive choroidal vessels into the median prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. VGAMs rarely present past infancy, and their natural history in adults is unknown. We report the first case of a familial-associated VGAM in an asymptomatic adult female patient. The clinical features of this case are presented alongside a systematic review of the literature on adult VGAM cases to assess the natural history, clinical management, and genetic basis of this rare neurovascular lesion. CLINICAL PRESENTATION: A previously healthy 44-year-old woman with a family history of a VGAM in a stillborn presented with an 8-week onset of dizziness and vertigo that spontaneously resolved. Time-resolved magnetic resonance angiography identified a choroidal VGAM. No intervention was undertaken at this time because of the patient's asymptomatic status after 9 months of follow-up. CONCLUSION: Based on our review of the literature, this is the first case report of a familial-associated VGAM in an adult patient and suggests that VGAM development can be genetically linked. Of 15 adult VGAM cases previously reported, all patients were either symptomatic or treated, thus precluding determination of VGAM natural history in adults. Patient outcomes correlated with the severity of presenting symptoms, which ranged from asymptomatic to immediately life-threatening. We hypothesize that self-selection may render VGAMs to be more benign for them to persist past childhood. Further investigation of the molecular biology underlying VGAM development is warranted.

Long natural history of recurrent granulosa cell tumor of the ovary 23 years after initial diagnosis: a case report and review of the literature

2005 ◽  
Vol 96 (1) ◽  
pp. 235-240 ◽  
Author(s):  
Katherine D. Crew ◽  
Michael H. Cohen ◽  
Daniel H. Smith ◽  
Amy D. Tiersten ◽  
Nikki M. Feirt ◽  
...  
Keyword(s):  
Case Report ◽  
Natural History ◽  
Granulosa Cell ◽  
Granulosa Cell Tumor ◽  
Cell Tumor ◽  
Initial Diagnosis ◽  
Review Of The Literature ◽  
History Of
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