58 terms. Questions. USMLE Mnemonics. USMLE Mnemonics. 0. It is characterized by a … | Open in Read by QxMD; Day AM, McCulloch CE, Hammill AM, et al. Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. 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. ... USMLE step 1 - mnemonics. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. Seizures 2. Sturge-Weber Syndrome. Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation. [2] It is characterized as a part of the neuroectodermal dysplasias, also known as phakomatoses. 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 97 terms. Specifically, patients demonstrate leptomeningeal angiomas and … doi: 10.1002/ajmg.1320570110 . N/A. [1] SWS was first reported by Dr. Schirmer in 1860 with later descriptions by Dr. Sturge in 1897 and Dr. Weber in 1922. OTHER SETS BY THIS CREATOR. 0. Sturge-Weber syndrome: hallmark features Sturge-Weber: 1. Mnemonics. Review Topic. 0. Browse. Sturge-Weber syndrome (SWS) is a neurological disorder marked by a distinctive port-wine stain on the forehead, scalp, or around the eye. 0. Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Learn vocabulary, terms, and more with flashcards, games, and other study tools. 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 Sturge Weber Syndrome - STURGE. Sporadic port wine Stain Tram track calcifications Unilateral Retardation Glaucoma GNAQ gene (activating mutation) Epilepsy. Medical Mnemonics - Sturge-Weber Syndrome: Hallmark Features - Pediatrics Mnemonics - Study for your IM Boards using the Knowmedge Internal Medicine medical mnemonics. sunshinesweetheart outcomes: stork bite/salmon patch will regress by 5-6year old or persist into adulthood; strawberry hemangioma will regress by 3-6 year old; port wine stain will regress or persist but it'll be associated with the sturge-weber stuff see the mnemonic pg 513 of FA 2019) + Snapshot: A 5-year-old male presents with an un provoked convulsive episode that lead to right-sided hemiparesis. Seizures 2. Am J Med Genet. 0 1. 58 terms. 10 terms. 51 terms. N/A. Start studying USMLE Mnemonics 3. 1995; 57 (1): p.35-45. GNAQ gene codes for a Gq protein that is associated with G-protein coupled receptors and can activate phospholipase C. 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