Arsheen Shared "MFM EXAM 2" - 35 Picmonics
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MFM EXAM 2
Turner Syndrome
- Signs and Symptoms
- Female (XO)
- Short stature
- Shield Chest
- Cystic Hygroma (Webbing of Neck)
- Lymphedema in Hands and Feet
- Ovarian Dysgenesis
- Streak Ovary
- Decreased Estrogen
- Increased FSH
- Increased LH
- Dysgerminoma
- Bicuspid Aortic Valve
- Preductal Coarctation of the Aorta
- Horseshoe Kidney
- Menopause before Menarche
- Amenorrhea
5 mins
Klinefelter's Syndrome
- Pathophysiology
- Male (XXY)
- Signs and Symptoms
- Eunuchoid Body Shape
- Gynecomastia and Female Hair Distribution
- Testicular Atrophy
- Dysgenesis of Seminiferous Tubules
- Possible Developmental Delay
- Hypogonadism
- Decreased Inhibin B
- Increased FSH
- Abnormal Leydig Cell Function
- Decreased Testosterone
- Increased LH
- Increased Estrogen
- Barr body (inactivated X chromosome)
6 mins
Cri Du Chat
- Pathophysiology
- Congenital Deletion of Short Arm of Chromosome 5p
- Signs and Symptoms
- High Pitched Cry/Mewing
- Microcephaly
- Hypotonia
- Difficulty Sucking and Swallowing
- Epicanthal Folds
- Widely Spaced Eyes
- Wide & Flat Nasal Bridge
- High Arched Palate
- Intellectual Disability
- Cardiac Abnormalities
3 mins
Thymic Aplasia (DiGeorge Syndrome)
- Pathophysiology
- DiGeorge Syndrome
- 22q11 Deletion
- Failure to Develop Third and Fourth Pharyngeal Pouches
- Signs and Symptoms
- Undeveloped Thymus
- T Cell Deficiency
- Recurrent Viral and Fungal Infections
- Undeveloped Parathyroids
- Hypocalcemia
- Tetany
- Aortic Defects
- Congenital Heart Defects
- Diagnosis
- Absent Thymic Shadow on CXR
2 mins
Patau Syndrome
- Pathophysiology
- Trisomy 13
- Signs and Symptoms
- Severe Intellectual Disability
- Microcephaly
- Holoprosencephaly
- Microphthalmia
- Polydactyly
- Cleft Lip/Cleft Palate
- Rocker Bottom Feet
- Omphalocele
- Cystic Kidneys
- Ventricular Septal Defect (VSD)
2 mins
Edwards Syndrome
- Pathophysiology
- Trisomy 18
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Rocker Bottom Feet
- Ventricular Septal Defect (VSD)
- Clenched Hands
- Overlapping Fingers
- Low-Set Ears
- Micrognathia
- Prominent Occiput
- Omphalocele
- Meckel's Diverticulum
- Horseshoe Kidney
- Malrotation of Intestines
3 mins
Down Syndrome
- Pathophysiology
- Trisomy 21
- Meiotic Nondisjunction
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Single palmar crease
- Flat Facies
- Duodenal Atresia
- Hirschsprung's Disease
- Septum Primum Type ASD
- Endocardial Cushion Defects
- Prominent Epicanthal Folds
- Increased Risk of Acute Lymphoblastic Leukemia
- Alzheimer's Disease
3 mins
Prader-Willi Syndrome
- Mechanism
- Maternal Imprinting
- Deletion of Chromosome 15q (Paternal Deletion)
- Signs And Symptoms
- Hyperphagia
- Truncal Obesity
- Hypogonadism
- Undescended Testicles (Cryptorchidism)
- Intellectual Disability (Mental Retardation)
- Neonatal Hypotonia (Floppy Baby)
- Almond Shaped Eyes
- Narrow Bifrontal Diameter
- Thin Upper Lip
3 mins
Angelman's Syndrome
- Mechanism
- Paternal Imprinting
- Deletion of Chromosome 15q (Maternal Deletion)
- Signs And Symptoms
- Happy Puppet Syndrome
- Inappropriate Laughter
- Ataxia
- Severe Intellectual Disability (Mental Retardation)
- Seizure
- Abnormal EEG
2 mins
Charcot Marie Tooth Disease
- Pathophysiology
- Hereditary Motor Sensory Neuropathy
- Autosomal Dominant
- PMP22 Duplication
- Schwann Cell Dysfunction
- Clinical Features
- Distal Muscle Weakness
- Foot Drop
- Calf Muscle Atrophy
- Scoliosis
- Hammertoes
- Pes Cavus
- Diagnosis
- Onion-skin Appearance on Nerve Biopsy
- Electrodiagnostic Studies
5 mins
Hemophilia
- Cause/Mechanism
- Genetic Mutation
- Assessment
- Prolonged Bleeding
- Pain
- Hemarthrosis
- Interventions
- Clotting Factor Replacement Therapy
- DDAVP (Desmopressin Acetate)
- Antifibrinolytic Therapy
- Analgesics
- Considerations
- Genetic Counseling
- Prevent Injury
3 mins
Achondroplasia
- Mechanism
- Autosomal Dominant
- Advanced Paternal Age
- Most Common Cause of Dwarfism
- Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
- Defective Endochondral Ossification
- Symptoms
- Delayed Motor Milestones
- Shortened Limbs with Normal Axial Skeleton Size
- May Develop Hydrocephalus
- Symptoms of Spinal Stenosis
- Normal Life Span and Fertility
2 mins
Marfan Syndrome
- Mechanism
- Fibrillin-1 Mutation
- Symptoms
- Autosomal Dominant
- Tall
- Arachnodactyly
- Pectus Excavatum
- Hypermobile Joints
- Aortic Aneurysm And Dissection
- Mitral Valve Prolapse (MVP)
- Subluxation of Lens (Superior)
2 mins
Neurofibromatosis Type 1
- Pathophysiology
- Autosomal Dominant
- Chromosome 17
- Signs and Symptoms
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
4 mins
Familial Hypercholesterolemia (Type IIa Familial Dyslipidemia)
- INHERITANCE
- Autosomal Dominant
- PATHOGENESIS
- Defective or Absent LDL Receptors
- Defective Apolipoprotein B-100 (ApoB-100)
- Lab Findings
- Increased LDL
- Decreased HDL
- Type IIb also has Increased VLDL
- Symptoms/Findings
- Accelerated Atherosclerosis
- Achilles Tendon Xanthomas
- Xanthelasma
- Corneal Arcus
4 mins
Retinoblastoma
- Characteristics
- Loss of Heterozygosity
- Chromosome 13
- Children
- Presentation
- Leukocoria
- Strabismus
- Vision Loss
- Association
- Osteosarcoma
- Diagnosis
- Genetic Testing
- Management
- Cryotherapy
- Photocoagulation
- Chemotherapy or Radiation
- Surgery
3 mins
Cystic Fibrosis Mechanisms
- Autosomal Recessive
- CFTR Chromosome 7
- Cl- channel Defect
- Decreased Chloride Secretion
- Increased Na and Water Reabsorption
- Increased Na and Cl in Sweat
- Dehydration of Mucous Layers
2 mins
Tay-Sachs Disease
- Pathophysiology
- Autosomal Recessive
- Hexosaminidase A Deficiency
- Increased GM2 Ganglioside
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Neurodegeneration
- Developmental Delay
- Diagnosis
- Onion Skin Lysosomes
1 min
Paroxysmal Nocturnal Hemoglobinuria (PNH)
- Pathophysiology
- Defective PIG-A Gene
- Deficiency of DAF (Decay Accelerating Factor CD55)
- Symptoms
- Dark Urine in the Morning
- Intravascular Hemolysis
- Thrombosis
- Diagnosis
- Decreased CD55 and CD59
- Treatment
- RBC Transfusion
- Eculizumab
- Bone Marrow Transplant is Curative
3 mins
Williams Syndrome
- Pathophysiology
- Microdeletion Of Long Arm Of Chromosome 7
- Elastin Gene
- Signs and Symptoms
- Elfin Facies
- Intellectual Disability
- Extreme Friendliness with Strangers
- Well Developed Verbal Skills
- Cardiovascular Problems
- Hypercalcemia
- Increased Sensitivity To Vitamin D
2 mins
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