CUMedi Case Genetics 2023

Where is the problem?

• Connective tissue

• Nervous system

• Skin

• Cornea

How can we help the patient(s)?

• Slow down the blood

• Blood transfusion

• Let them eat cake

• Diuretics

Where is the lesion?

• CNS

• Motor neuron

• NMJ

• Muscle

What is the diagnosis?

• Duchenne Muscular Atrophy

• Spinal Muscular Atrophy

• Becker Muscular Atrophy

• Prader-Willi syndrome

What is the diagnosis?

• Duchenne Muscular Atrophy

• Spinal Muscular Atrophy

• Becker Muscular Atrophy

• Prader-Willi syndrome

What is this physical examinations?

• Modified Global sign

• Modified Growing sign

• Modified Gower sign

• Chvostek sign

What is the final diagnosis?

• Duchenne Muscular Atrophy

• Spinobulbar Muscular Atrophy

• Spinal Muscular Atrophy

• Friedreich Ataxia

What is the diagnosis?

• Thanatophoric dysplasia

• Spondyloepiphyseal Dysplasia

• Achondroplasia

• Hobbit from Middle-earth

Final Dx?

• A.Dravet syndrome

• Lennox-Gastaut syndrome

• Ohtahara syndrome

• Tuberous Sclerosis Complex

What is the diagnosis?

• Turner syndrome

• Achondroplasia

• Noonan syndrome

• Hobbit from Middle-earth