Cargando…

Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis

Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and relate...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bayram-Suverza, Mauricio, Torres-Navarro, Karla Alejandra, Hernández-Vázquez, Ángeles Yahel, Ramírez-Estudillo, Juan Abel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Interesting Images
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10417591/ https://www.ncbi.nlm.nih.gov/pubmed/37568951 http://dx.doi.org/10.3390/diagnostics13152588

Ejemplares similares

A Differential Diagnosis of Unusual Gastric Ulcer
por: Sung, Soo-Yoon, et al.
Publicado: (2022)

Echocardiography, Computed Tomography and Magnetic Resonance Imaging in the Differential Diagnosis of a Tumor in the Left Atrium of the Heart
por: Zalewska-Adamiec, Malgorzata, et al.
Publicado: (2022)

Posterior polar annular choroidal dystrophy association with cystoid macular edema
por: Del Valle‐Nava, Fernando, et al.
Publicado: (2019)

Coexistence of atrial myxoma and lung cancer on fluorodeoxyglucose positron emission tomography/computed tomography: The impact of distinct fluorodeoxyglucose uptake pattern on differential diagnosis
por: Koc, Kevser, et al.
Publicado: (2014)

An Antenatal Diagnosis: Congenital High Airway Obstruction
por: Miital, S, et al.
Publicado: (2017)

Prenatal Ultrasound Diagnosis of Klippel–Trenaunay Syndrome
por: Gică, Nicolae, et al.
Publicado: (2023)

Pocket flashlight-elicited Quincke pulse for aortic dissection diagnosis
por: Mizuno, Atsushi, et al.
Publicado: (2013)

The Contribution of SPECT/CT in the Diagnosis of Stress Fracture of the Proximal Tibia
por: Okudan, Berna, et al.
Publicado: (2018)

Diagnosis of the Trigeminal Nerve Injury in a Patient with Pontine Hemorrhage
por: Choi, Eun Bi, et al.
Publicado: (2020)

Diagnosis of an Acute Anterior Wall Infarction in Dual-Energy CT
por: Gökduman, Aynur, et al.
Publicado: (2023)

Imaging Criteria for the Diagnosis of Progressive Supranuclear Palsy: Supportive or Mandatory?
por: Lupascu, Nicoleta, et al.
Publicado: (2023)

Quadricuspid Aortic Valve: A Rare Intraoperative Diagnosis by Transesophageal Echocardiography
por: Das, Anupam, et al.
Publicado: (2018)

Simple and Accurate Border Detection Algorithm for Melanoma Computer Aided Diagnosis
por: Guaragnella, Cataldo, et al.
Publicado: (2020)

Delayed Diagnosis of Tuberculosis Mistaken for Tinea Corporis in a Healthy Adult
por: Kim, Jae-Wang, et al.
Publicado: (2021)

An Underrated Diagnosis of Superior Mesenteric Artery Syndrome: A Case Report
por: Ciortescu, Irina, et al.
Publicado: (2022)

Primary Effusion Lymphoma: A Rare and Challenging Diagnosis for Recurrent Pleural Effusion
por: Pereira, Letícia Jacome, et al.
Publicado: (2023)

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
por: Malvezzi, João VM, et al.
Publicado: (2018)

Active Giant Cell Vasculitis Diagnosis with (68)Ga PSMA PET/CT Imaging
por: Sağer, Muhammet Sait, et al.
Publicado: (2021)

Diagnosis of Uric Acid-Based Urine Sedimentation in the Bladder Using Dual-Energy CT
por: Booz, Christian, et al.
Publicado: (2023)

Unusual Uptake of [(131)I] in a Tenosynovial Giant Cell Tumour Relapse in a Patient with Differentiated Thyroid Cancer
por: Sánchez, Francisco Manuel Cañete, et al.
Publicado: (2022)

Conjunctival MALT Lymphoma: Utility of FDG PET/CT for Diagnosis, Staging, and Evaluation of Treatment Response
por: Sallak, Asmaa, et al.
Publicado: (2014)

Parasitic Leiomyoma on PET-CT in A Suspected Case of Uterine Sarcoma - Report on Diagnosis and Management
por: Anand, Anuja, et al.
Publicado: (2019)

Diagnosis of Dizziness Due to a Core Vestibular Projection Injury in a Patient with Intracerebral Hemorrhage
por: Kwon, Hyeok Gyu, et al.
Publicado: (2020)

Fractional Flow Reserve in the Diagnosis of Ischemic Heart Disease in a Patient with Coronary Artery Ectasia
por: Zalewska-Adamiec, Malgorzata, et al.
Publicado: (2021)

Utility of (18)F-Fluorodeoxyglucose Positron Emission Tomography/Magnetic Resonance Imaging in the Diagnosis of Cardiac Paraganglioma
por: Bhojwani, Nicholas, et al.
Publicado: (2017)

The Pitfall of Ganglioneuroblastoma-Nodular Diagnosis: Clinical and Imaging Considerations over a Rare Bifocal Sporadic Case
por: Montante, Claudio, et al.
Publicado: (2022)

Evolution of (18)F-FDG Uptake as a Pitfall of Image Diagnosis for Systemic Anaplastic Large Cell Lymphoma
por: Chang, Hung, et al.
Publicado: (2021)

Bone single-photon emission computed tomography and three-dimensional computed tomography in the diagnosis of low costal variation and pathologies
por: Silov, Güler, et al.
Publicado: (2015)

FDG PET/CT with SPM Analysis in Early Diagnosis of Clinically Suspected Osmotic Demyelination Syndrome with Non-contributory MRI
por: Seniaray, Nikhil, et al.
Publicado: (2019)

Spontaneous Resolution of Idiopathic Panniculitis: Role of (18)F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography in Diagnosis and follow-up
por: Verma, Priyanka, et al.
Publicado: (2018)

Penile Metastasis from Renal Cell Carcinoma: Diagnosis and Posttreatment Response Seen on Fluorodeoxyglucose Positron Emission Tomography-Computed Tomography
por: Joshi, Prathamesh Vijay, et al.
Publicado: (2020)

Renal Cell Carcinoma Mimicking with Peritoneal Carcinomatosis and Krukenberg Tumor: Diagnosis Seen on Fluorodeoxyglucose Positron Emission Tomography-Computed Tomography
por: Kumar, Navin, et al.
Publicado: (2021)

Pericarditis and Takotsubo Syndrome—Diagnosis of Cardiac Complications of Post-Acute COVID-19 Syndrome in a 77-Year-Old Woman
por: Zalewska-Adamiec, Malgorzata, et al.
Publicado: (2022)

Diagnosis of absent right superior vena cava with intraoperative transesophageal echocardiography in a child with Holt-Oram syndrome: Anesthetic and perfusion implications
por: Misra, Satyajeet, et al.
Publicado: (2021)

SARS-CoV-2 (COVID-19) pneumonia: Incidental finding on (18)F-FDG PET/CT study for vasculitis diagnosis()
por: Salvat Dávila, Carmen, et al.
Publicado: (2021)

Somatostatin Receptor SPECT/CT using (99m)Tc Labeled HYNIC-TOC Aids in Diagnosis of Primary Optic Nerve Sheath Meningioma
por: Chandra, Piyush, et al.
Publicado: (2017)

(18)F-Fluorodeoxyglucose Positron Emission Tomography-Computed Tomography in Initial Diagnosis and Treatment Response Evaluation of New Onset Refractory Status Epilepticus
por: Seniaray, Nikhil, et al.
Publicado: (2020)

Diagnosis of Complex Regional Pain Syndrome I Following Traumatic Axonal Injury of the Corticospinal Tract in a Patient with Mild Traumatic Brain Injury
por: Jang, Sung Ho, et al.
Publicado: (2020)

Mycobacterial Lymphadenitis in a Human Immunodeficiency Virus-Infected Patient: Usefulness of 18F-Fluorodeoxyglucose Positron Emission Tomography for Diagnosis and Monitoring the Response to Treatment
por: Filippi, Luca, et al.
Publicado: (2019)

Bilateral Vertebral Artery Vasculitis—A Rare Manifestation of Giant Cell Arteritis and a Difficult Diagnosis Made Possible by 2-[(18)F]FDG PET/CT
por: Justesen, Natasja Degn, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ctjhmsroe2qh3cg4nkf0fevqbh