Turner Syndrome Vignette Flashcards

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1
Q

Recognize the clinical presentation of patients with Turner Syndrome

A
  • Short stature
  • Rudimentary ovaries
  • Dysmorphic features
  • Cardiovascular System
  • Bony Abnormalities
  • Urinary system
  • Vision and Hearing
  • Autoimmunity
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2
Q

Dysmorphic features

A
o	Lymphedema of hands and feet at birth
o	Webbed neck
o	Low posterior hairline 
o	Broad chest with widely spaced nipples
o	Poor breast development
o	Inner canthal folds
o	Ptosis
o	Blue sclera
o	Prominent auricles that are low set
o	Small mandible
o	Narrow, highly arched palate
o	Small fingernails
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3
Q

Cardiovascular system

A

o Cystic hygromas (lymph filled cysts, usually in posterior triangle of neck)
o Bicuspid aortic valve
o Coarctation of aorta (narrowing, ballooning inwards of aorta)
o Abnormal pulmonary venous connections
o Persistent left superior vena cava
o Dilation of aorta and other major vessels
o Electrocardiographic abnormalities
o Systematic hypertension

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4
Q

Bony Abnormalities

A

o Cubitus valgus (increased carrying angle at elbows)
o Genu valgum
o Short 4th metacarpal
o Madelung deformity (deformity of radius resulting in subluxation of wrist)
o Scoliosis

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5
Q

Urinary system

A

o Kidney anomalies (either structural or positional)

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6
Q

Vision and Hearing

A
o	Hyperopia (farsightedness)
o	Strabismus (lazy eye)
o	Hearing loss
---Conductive hearing loss
---Sensoneurial hearing loss
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7
Q

Autoimmunity

A

o Celiac disease

o Thyroid dysfunction

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8
Q

Enumerate challenges across the lifespan in patients with Turner Syndrome

A

Infertility, short stature, sexual development, and concerns regarding health and aging are issues that have been identified as important to this population.

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9
Q

Identify pitfalls of the medical culture in dealing with patients with Turner Syndrome (3)

A
  1. Physicians have a tendency to keep secrets regarding either the diagnosis of Turner’s Syndrome or elements of the disease process.
  2. physician’s difficulty communicating a diagnosis of infertility in a compassionate manner.
  3. patients’ feelings of dissatisfaction with doctors.
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