Start studying USMLE Mnemonics 3. PortWine stain Guthrie card: diseases identified with it "Guthrie Cards Can Help Predict Bad Metabolism": Galactosaemia Cystic fibrosis Congenital adrenal hyperplasia Hypothyroidism Phenylketonuria Biotidinase deficiency Maple syrup urine disease Croup: symptoms 3 S's: Stridor USMLE Mnemonics. 97 terms. Browse. Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. 58 terms. N/A. Moises Dominguez 0 % Topic. [2] It is characterized as a part of the neuroectodermal dysplasias, also known as phakomatoses. 51 terms. Step 2 DDX Workup. [1] SWS was first reported by Dr. Schirmer in 1860 with later descriptions by Dr. Sturge in 1897 and Dr. Weber in 1922. 1995; 57 (1): p.35-45. A genetic somatic activating mutation in the GNAQ gene during fetal development has been found to cause both port wine stains (a common congenital malformation) and the Sturge Weber Syndrome. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. Mnemonics. GNAQ gene codes for a Gq protein that is associated with G-protein coupled receptors and can activate phospholipase C. Search. Sturge Weber syndrome, sometimes called encephalotrigeminal angiomatosis, is a rare congenital neurocutaneous disorder characterized by proliferation of arteries in the brain resulting in multiple angiomas. N/A. Sturge-Weber Syndrome. Seizures 2. 0. 10 terms. ... USMLE step 1 - mnemonics. Specifically, patients demonstrate leptomeningeal angiomas and … Questions. Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a congenital neuro-oculocutaneous syndrome that presents at birth. It is characterized by a … Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation. 0. | Open in Read by QxMD; Day AM, McCulloch CE, Hammill AM, et al. Am J Med Genet. Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. USMLE Mnemonics. doi: 10.1002/ajmg.1320570110 . Sturge Weber Syndrome - STURGE. 58 terms. Medical Mnemonics - Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Study for your IM Boards using the Knowmedge Internal Medicine medical mnemonics. PortWine stain Guthrie card: diseases identified with it "Guthrie Cards Can Help Predict Bad Metabolism": Galactosaemia Cystic fibrosis Congenital adrenal hyperplasia Hypothyroidism Phenylketonuria Biotidinase deficiency Maple syrup urine disease Croup: symptoms 3 S's: Stridor Review Topic. Snapshot: A 5-year-old male presents with an un provoked convulsive episode that lead to right-sided hemiparesis. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. 0. 0. Seizures 2. Learn vocabulary, terms, and more with flashcards, games, and other study tools. 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