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100
This is the most likely diagnosis in a patient with history of a round ringworm-like lesion 1 week ago and then with subsequent development of small, oval, minimally pruritic plaques that run parallel to skin folds and rib lines.
What is pityriasis rosea?
100
These are the 2 antibodies that a mother will likely have if a newborn presents with a congenital complete heart block and macular rash on the scalp and face.
What are Anti-SSA (Ro) and Anti-SSB (La) antibodies?
100
This disease is due to hypoxanthine guanine phosphoribosyltransferase (HGPRT) deficiency.
What is Lesch-Nyhan Disease?
100
A mother will most likely have this diagnosis if her baby is born with a microcolon (aka neonatal small left colon syndrome).
What is diabetes mellitus?
100
This is the next step in management in a child that presents pulseless and found to have ventricular tachycardia on ECG, for whom CPR has been started.
What is cardioversion with 2J/kg?
200
These are small, whitish-yellow masses on either side of the raphe on the hard palate found usually in a newborn.
What are Epstein pearls?
200
This is the classic triad seen in Behcet Disease.
What is painful, recurrent oral lesions, genital lesions, and inflammatory eye disease?
200
This disease presents with cutaneous photosensitivity and develops fluid-filled vesicles and bullae on the sun-exposed areas of the face, dorsa of the hands/feet, forearms and legs.
What is porphyria cutanea tarda?
200
This is the APGAR score for a crying newborn with HR of 120, active motion, grimace on stimulation and pink body with blue limbs.
What is 8?
200
This is the most likely diagnosis in a patient who presents after being hit in the eye with a baseball and with a clinical finding of a layer of blood obscuring the lower third of the iris but the pupil looks normal, complaining of eye pain.
What is a hyphema?
300
This is the syndrome associated with a diagnosis in a newborn that presents with areas of absent skin on their head.
What is Patau Syndrome (trisomy 18)?
300
This is the classic nasal deformity seen in a "pulmonary-renal" syndrome in which patients are usually c-ANCA positive.
What is saddle nose deformity?
300
In a rare x-linked recessive disease that presents with progressive hypotonia, seizures, and failure to thrive, the mutated gene causes an impaired uptake of this mineral.
What is copper? Menke's disease (Kinky hair disease) -- characteristic coarse wiry hair
300
This is what the "A" in CHARGE syndrome stands for.
What is atresia choanae? C- Coloboma H- Heart Disease A- Atresia Choanae R- Retardation of growth and development G- Genital anomalies E- Ear anomalies
300
These are 4 substances/drugs/medications that can cause miosis.
What are cholinergics, clonidine, opiates, organophosphates, phencyclidine, phenothiazine, pilocarpine,or sedatives (barbiturates).
400
This disease is autosomal dominant and occurs on the extensor surfaces of the extremities as fine, white scales without redness. The rash improves in hot, humid climates and during the summer.
What is ichthyosis vulgaris?
400
This is the most likely diagnosis in a 3 year old boy that presents with fever of 5-7 days duration occuring every 4 weeks, apthous ulcers of the mouth, sore throat, cervical lymphadenitis and no current or history of neutropenia.
What is PFAPA -- periodic fever, aphthous-stomatitis, pharyngitis, and cervical adenitis?
400
This mucopolysaccharidosis has disproportionate involvement of the CNS compared to the rest of the body?
What is Sanfilippo Syndrome (mucopolysaccharidosis type III)?
400
This is where surfactant is produced and stored in the fetus.
What are Type II Alveolar Cells?
400
Ingestion of this can cause tachycardia, BP issues, widened QRS, prolonged QT, drowsiness, lethargy and/or seizures.
What are tricyclic antidepressants?
500
Infants with port-wine stains of the lower extremities are at risk for this syndrome. It presents with a vascular malformation of an extremity, with soft tissue and/or limb overgrowth, and with development of venous varicosities.
What is Klippel-Trenaunay Syndrome?
500
This recurrent infection should always raise suspicion of Sjogren Syndrome.
What is recurrent parotitis?
500
A triad of ptosis, ophthalmoplegia, and ragged-red fiber myopathy indicates the presence of this mutation.
What is a mitochondrial DNA mutation? Kearns-Sayre syndrome is the most severe.
500
This is the leading cause of infant death in the United States.
What are congenital malformations?
500
Ingestion of this can cause CNS depression, bradycardia, hypotension, arrhythmias, and hypoglycemia.
What are beta blockers?