
Review - Clinical - Presentations I
[Intro: 128 BPM. Bright synth chords and a fast, ticking hi-hat build immediate energy. The singer lets out a quick, breathy laugh before the heavy dance beat drops.] [Block 1: Upbeat four-on-the-floor groove starts. Vocals are energetic and bouncy.] Lesch-Nyhan, X-linked, X, X so a boy (Shout) presents Gout, intellectual disability, self-mutilation (snare) NEXT Kartagener (Shout) presents Situs inversus, ear infections, sinusitis, bronchiectasis, infertility (snare) NEXT Osteogenesis imperfecta (Shout) presents Blue sclera, fractures, dental problems, conductive/mixed hearing loss (snare) NEXT [Block 2: The bassline gets more driving. The singer accelerates the delivery effortlessly.] Ehlers-Danlos syndrome “type five, 5, 5 collagen, type 3 in vascular type (Shout) presents Elastic skin, skin fragility, joint hypermobility, bleeding tendency, hernias, pelvic organ prolapse, aortic root dilatation and mitral valve prolapse, scoliosis For vascular type. “Distinctive facial features “pinched nose, thin lips, hollow cheeks, lobeless ears”, increased risk of spontaneous vascular or visceral rupture (snare) NEXT Marfan (Shout) presents Joint hypermobility, arachnodactyly, lens dislocation “upward and temporal”, Myopia, retinal detachment, aortic dissection, tall, pectus excavatum, scoliosis, hernias, mitral valve prolapse and many valvulopathies, pneumothorax, ADHD (snare) NEXT [Block 3: Drums drop to a bright clapping rhythm. Delivery is punchy and syncopated.] Homocystinuria (AR) “cystathionine synthase deficiency” (Shout) presents thrombosis, arachnodactyly, pectus deformity, lens dislocation “downward and nasal”, mitral valve prolapse (snare) NEXT McCune-Albright “Gs-protein activation” (Shout) presents Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities (snare) NEXT Cystic fibrosis (Shout) presents Meconium ileus, nasal polyps, diabetes, biliary cirrhosis, cholelithiasis, intestinal obstruction, G.I. malignancies (snare) NEXT [Block 4: Full EDM-pop beat returns. The synths swell with high-energy chords.] Patau syndrome (Shout) presents cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia (snare) NEXT Edwards syndrome (Shout) presents microcephaly, rocker-bottom feet, clenched hands, structural heart defect (snare) NEXT Down syndrome (Shout) presents Single palmar crease, flat facies, prominent epicanthal folds, congenital heart disease “complete AV canal defect” (VSD, ASD, ToF, PDA, etc.) intellectual disability, duodenal atresia, tracheoesophageal fistula, Hirschsprung, leukemia, infertility, thyroid (snare) NEXT Cri-du-chat “deletion on chromosome 5” (Shout) presents Microcephaly, high-pitched cry, intellectual disability (snare) NEXT [Block 5: A sparkling synth arpeggio loops rapidly. The delivery is breathless and fast.] Wernicke encephalopathy (Shout) presents Confusion, ophthalmoplegia/nystagmus, ataxia *Confabulation and personality changes means Korsakoff (snare) NEXT Dry beriberi “Symmetrical peripheral neuropathy, Wernicke & Korsakoff” Wet beriberi “Dilated cardiomyopathy/high-output heart failure” hence edema (snare) NEXT Pellagra (Shout) presents Dermatitis, dementia, diarrhea (snare) NEXT [Outro: The beat shifts to a rapid, euphoric build-up. The singer delivers the final lines with maximum energy.] Scurvy in tea and toast diet (Shout) presents gingivitis, mucosal bleeding, poor wound healing, petechiae, corkscrew hairs, perifollicular hemorrhages, leg swelling, anemia (snare) NEXT Rickets (Shout) presents poor linear growth, bowing of the legs (can be painful), thickening at the wrists and knees, and costochondral junction prominence (rachitic rosary) (snare) NEXT Hypophosphatemic rickets. X-linked vitamin D–resistant. Inability to reabsorb P in kidney Vitamin K deficiency “Hemorrhagic disease of newborn” [Ending: A bright crash cymbal hits as the synth chords echo out into a massive reverb tail. Total silence.]

