Fraser syndrome without cryptophthalmos: Two cases.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103839
Abstract: Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies. This condition is due to homozygous or compound heterozygous mutations… read more here.
Keywords: fraser syndrome; cases fraser; without cryptophthalmos; syndrome without ... See more keywords
A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects
Sign Up to like & getrecommendations! Published in 2018 at "HeartRhythm Case Reports"
DOI: 10.1016/j.hrcr.2018.03.003
Abstract: Key Teaching Points • Electrocardiograms in patients with Timothy syndrome patients sometimes present T-wave depolarization pattern similar to long QT syndrome type 3, such as a late-onset peaked T wave. • We identified a novel… read more here.
Keywords: timothy syndrome; cacna1c mutation; novel cacna1c; without syndactyly ... See more keywords
Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2206888
Abstract: BACKGROUND Traboulsi syndrome is a rare disease clinically characterized by facial dysmorphism, abnormal spontaneous filtering blebs, ectopia lentis (EL) and multiple anterior segment abnormalities. MATERIAL AND METHODS An 18-year-old female was referred to the Emergency… read more here.
Keywords: syndrome without; variant; syndrome; asph ... See more keywords
Atypical Wiskott–Aldrich syndrome without thrombocytopenia partially responding to omalizumab therapy
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.15119
Abstract: Primary immunodeficiencies with eczema can be easily misdiagnosed as atopic eczema, and thus require a high degree of awareness for diagnosis. Wiskott-Aldrich syndrome (WAS) is a rare disease and the fact that WAS without microthrombocytopenia… read more here.
Keywords: aldrich syndrome; wiskott aldrich; atypical wiskott; syndrome without ... See more keywords
Caudal regression syndrome without maternal diabetes mellitus
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-253136
Abstract: Caudal regression is a rare complex disorder impacting the formation of the caudal segment of the spine and spinal cord. We report a preterm newborn baby who was referred to us due to respiratory distress… read more here.
Keywords: regression syndrome; regression; syndrome without; maternal diabetes ... See more keywords
A Case of Atypical Pseudo-Meigs' Syndrome without Pleural Effusion due to Ovarian Metastasis from Sigmoid Colon Cancer.
Sign Up to like & getrecommendations! Published in 2022 at "Internal medicine"
DOI: 10.2169/internalmedicine.0157-22
Abstract: We herein report a case of atypical pseudo-Meigs' syndrome without pleural effusion. A 46-year-old woman was diagnosed with an ovarian tumor and sigmoid colon cancer with massive ascites. She underwent surgical resection of the sigmoid… read more here.
Keywords: sigmoid colon; syndrome without; sigmoid; pseudo meigs ... See more keywords
ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.910099
Abstract: Background ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) is rare. Rapid-onset morbid obesity is usually the first recognizable sign of this syndrome, however a subset of patients develop ROHHAD syndrome without… read more here.
Keywords: rohhad syndrome; rapid onset; syndrome without; without rapid ... See more keywords
Machine and Deep Learning Applied to Predict Metabolic Syndrome without a Blood Screening
Sign Up to like & getrecommendations! Published in 2021 at "Applied Sciences"
DOI: 10.3390/app11104334
Abstract: The exponential increase of metabolic syndrome and its association with the risk impact of morbidity and mortality has propitiated the development of tools to diagnose this syndrome early. This work presents a model that is… read more here.
Keywords: metabolic syndrome; machine deep; blood; blood screening ... See more keywords