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Achalasia: confirm with esophageal manometry
Capillary (aka strawberry or infantile) hemangioma: ~0.1 of births, >0.9 gone by 9 years
Coarctation of the aorta: F/M ~ 0.3, 0.1 of 45XO (preductal), assoc. bicuspid aortic valve
Acanthocytosis: liver disease*, abetaliproteinemia, neuroacanthocytoses, anorexia, hypothyroidism, splenectomy
Actinic keratosis: 20% risk of progression to SCC, usu. erythematous base and hard hyperkeratosis vs seborrheic keratosis
Brushfield spots: ~50% of Trisomy 21 (esp. Caucasian), not always pathological sign
Cherry red macula: lipid storage dz (inc. Tay-Sachs, Niemann-Pick), CRAO, ...
Chondrocalcinosis: radiographic evidence of CPPD deposition/pseudogout, Rx steroids/NSAIDS/sometimes colchicine
Coloboma: varying impact on vision, no treatment
Congenital diaphgragmatic hernia - Bochdalek type: posterolateral defect, ~0.8 left-sided
Double bubble sign: air trapped in stomach and duodenum due to duodenal atresia;  duodenal atresia (0.3) (0.08) trisomy 21
Ebstein's anomaly: causes TR, ~0.5 have ASD or PFO, ~0.5 have WPW, inc. w/ maternal exposure to Li or BZO
Fetal alcohol syndrome: 3 facial features are smooth philtrum, thin vermillion, small palpebral fissures; also microcephaly ...
Frontotemporal lobar degeneration: clinical syndrome usu. FTD w/ histology either tauopathy (CBD, Pick' dz, PSP), ubiquitin-positive, DLDH; 2nd most common early-onset dementia after AD
Hampton's hump: pulmonary infarction and atalectasis due to pulmonary embolism
Heberden's nodes: DIP swelling due to osteophytes assoc. with OA
Henoch-Schonlein purpura: palpable purpura w/o thrombocytopenia or coagulopathy, arthritis/arthralgia, abd pain, renal dz; usu. follows URTI, self-limiting; RPGN II
Herpes labialis: acyclovir or penciclovir speeds healing by 10%
Hutchinson's teeth - congenital syphilis
Hypoplastic left heart syndrome: inc. frequency in Turner syndrome, Noonan syndrome
Internal hordeolum: acute, focal infection, usu. Staphylococcal; can become chalazion due to apocrine gland stasis
Keratoacanthoma
McCune-Albright syndrome
Nephrocalcinosis
Osgood-Schlatter disease
Keratitis
Keratoderma blennorrhagicum
Lichen planus
Melanoma
Mongolian spot
Patent ductus arteriosus
Polycystic ovary syndrome
Pick's disease
Retropharyngeal abscess
Salter-Harris fracture
Simian crease
Spider nevus
Squamous cell carcinoma
Surface anatomy
Tetralogy of Fallot
Tanner stages 1-6 (male)
Tracheoesophageal fistula
Transposition of the Great Vessels
Tricuspid atresia
Trisomy 13 (Patau syndrome)
Trisomy 18 (Edward's syndrome)
Trucus arteriosus
Turner syndrome
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