Ryan Shared "CFMG" - 74 Picmonics
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CFMG
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
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
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
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
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
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
Neurofibromatosis Type 2
- Pathophysiology
- Autosomal-Dominant
- Chromosome 22
- Signs and Symptoms
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
2 mins
Muscular Dystrophy
- Mechanism
- X-linked Recessive
- Signs and Symptoms
- Muscle Weakness
- Motor Problems
- Gower Sign
- Large Calves
- Waddling Gait
- Loss of Ambulation
- Consideration
- Cardiac and Respiratory Failure
2 mins
Hemochromatosis Pathophysiology
- Pathophysiology
- Hemosiderin Deposition
- Autosomal Recessive
- HLA-A3
- Secondary to Transfusion Therapy
- Increase Iron
- Increase Ferritin
- Increased Transferrin Saturation
2 mins
Hemochromatosis Signs and Symptoms
- Signs and Symptoms
- Micronodular Cirrhosis
- Hepatocellular Carcinoma
- Diabetes
- Bronze Skin Coloring
- CHF
- Arthropathy
- Testicular Atrophy
- Impotence
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
Ehlers-Danlos Syndrome Types
- Types
- Types 1 and 2 - Classical
- Type V Collagen Mutation
- Joints and Skin
- Type 3 - Hypermobility
- Most Common
- Tenascin X Deficiency
- Joint Instability
- Type 4 - Vascular
- Type III Collagen Mutation
- Vascular and Organ Rupture
2 mins
Ehlers-Danlos Syndrome Disease
- Pathophysiology
- Faulty Collagen Synthesis
- Autosomal Dominant or Recessive
- Various Severities
- Signs and Symptoms
- Hypermobile Joints
- Hyperextensible Skin
- Easy Bruising/Bleeding
- Berry (Saccular) Aneurysm
- Considerations
- Brighton Criteria
2 mins
Fragile X
- Pathophysiology
- Trinucleotide Repeat
- CGG Repeats
- FMR1 Gene
- X-linked Dominant
- Signs and Symptoms
- Developmental Delay
- Autism
- Large Ears
- Large Jaw
- Long Face
- Macroorchidism
2 mins
Friedreich's Ataxia
- Trinucleotide Repeat
- GAA Repeat
- Frataxin
- Mitochondrial Dysfunction
- Autosomal Recessive
- Hammertoes
- High Arches
- Kyphoscoliosis
- Lateral Corticospinal Tract
- Posterior Column
- Spinocerebellar Tract
- Type I Diabetes Mellitus
- Hypertrophic Cardiomyopathy
1 min
Huntington's Disease
- Pathophysiology
- Autosomal Dominant
- Trinucleotide Repeat
- CAG Repeats
- Chromosome 4
- Anticipation
- Caudate
- Decrease of ACh
- Decrease of GABA
- Signs and Symptoms
- Chorea
- Dementia
- Depression
- Glutamate Toxicity
- Neuronal Death via NMDA Binding
3 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
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
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