New ocular finding in Baraitser-Winter syndrome (BWS).
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.10.006
Abstract: Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness,… read more here.
Keywords: winter syndrome; baraitser; baraitser winter; new ocular ... See more keywords
The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of pediatric genetics"
DOI: 10.1055/s-0036-1593967
Abstract: An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother… read more here.
Keywords: winter syndrome; syndrome; syndrome type; baraitser winter ... See more keywords
de Winter syndrome or inferior STEMI?
Sign Up to like & getrecommendations! Published in 2021 at "BMC Cardiovascular Disorders"
DOI: 10.1186/s12872-021-02441-4
Abstract: Background The de Winter electrocardiography (ECG) pattern is associated with acute total or subtotal occlusion of the left anterior descending coronary artery (LAD) characterized by upsloping ST-segment depression at the J point in leads V… read more here.
Keywords: winter; winter syndrome; inferior stemi; syndrome inferior ... See more keywords
Winter syndrome: about an uncommon case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Women's Health"
DOI: 10.1186/s12905-020-00951-5
Abstract: Background Congenital genital tract outflow obstruction may occur at different levels and with different clinical presentations. Winter syndrome was first described in 1968 as an association of renal, genital and middle ear anomalies. This syndrome… read more here.
Keywords: syndrome uncommon; vaginal atresia; case; winter syndrome ... See more keywords