Updated: 12/11/2019

[Blocked from Release] Hereditary Deafness Disorders

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Alport's Syndrome
  • Most common form of hereditary nephritidis
  • Patients develop glomerulonephritis that progresses to renal failure
  • Some patients develop hearing loss
  • 10% have eye abnormalities such as cataracts
Leopard Syndrome
  • Autosomal dominant
  • Presenation
    • lentigines
    • EKG abnormalities
    • ocular hypertelorism
    • pulmonary stenosis
    • abnormal genitalia
    • growth retardation
    • sensorineural deafness
Pendred's Syndrome
  • Autosomal recessive
  • Presentation
    • deafness and goiter
    • the goiter appears at puberty and most patients are euthyroid
Waardenburg's Syndrome
  • Autosomal dominant
  • Presentation 
    • white forelock
    • pathches of hypopigmentation
    • sensorineural hearing loss
    • lateral displacement of the inner canthi
    • sometimes concurrent with Hirschsprung disease
Usher's Syndrome
  • Presentation
    • deafness
    • mental retardation
    • seizures
    • retinitis pigmentosa
    • cataracts
 

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Questions (1)

(M2.ET.17.4694) A 35-year-old female presents to your office for a routine physical. She informs you that she is pregnant, and that the father of her child has Waardenburg’s syndrome. She asks you about common findings in Waardenburg’s syndrome. Which of the following features are not associated of Waardenburg’s syndrome? Tested Concept

QID: 107713
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Heterochromia

33%

(2/6)

2

Hair hypopigmentation

0%

(0/6)

3

Conductive hearing loss

33%

(2/6)

4

Lateral displacement of inner canthi

17%

(1/6)

5

Broad nasal root

17%

(1/6)

M 6 C

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Topic COMMENTS (3)
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