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AUDE 5310 Embryology & Genetic Conditions > Genetic HL w/ External Ear Abnormalities & Eye Abnormalities > Flashcards

Genetic HL w/ External Ear Abnormalities & Eye Abnormalities Flashcards

1
Q

what is mandibulofacial dysostosis

A

treacher collins syndrome

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2
Q

what is the heredity of treacher collins syndrome

A

AD w/ almost 100% penetrance
majority are deletions or nonsense mutations
60% of cases are new mutations with the father tending to be older

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3
Q

is treacher collins syndrome a 1 & 2 branchial arch syndrome

A

yes

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4
Q

what is a deletion mutation

A

codon is incorrectly read

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5
Q

what is nonsense mutations

A

stop codon instead of another codon

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6
Q

how do you read 5q31.3

A

chrom 5, long arm q, region 33, band 3

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7
Q

what is a teratogenic

A

any agent that causes an abnormality following fetal exposure during pregnancy
only causes a mutation in a developing embryo or fetus in the environment

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8
Q

clinical features of treacher collins is characterized by

A

abnormalities of facial structures formed form first pharyngeal arch
coloboma, fish mouth

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9
Q

FIRST PHARYNGEAL ARCH SYNDROME

A

treacher collins syndrome

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10
Q

what is atresia

A

small ear canal

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11
Q

what are audiologic findings of treacher collins

A

malformed pinna and EAC atresia, absent or malformed ossicles
mild to moderate bilateral conductive HL in >50% of cases

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12
Q

can you fix treacher collins with a baha?

A

yes

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13
Q

what is the differential diagnosis of treaacher collins

A

oculo-auriculo-vertebral spectrum (OAV) disorder

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14
Q

when facial structures are not put together normally and they look off

A

dysostosis

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15
Q

what is BOR

A

Affects structures developing from branchial arches, ears, & kidneys
branchio oto renal syndrome

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16
Q

second most common cause of AD HL

A

BOR

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17
Q

associated with a transcription factor involved in development of the inner ear and certain kidney cells

A

BOR

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18
Q

what is Mondini’s malformation

A

cochlea doesn’t complete the full turns
have severe-profound snhl

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19
Q

what are characteristic findings of BOR

A

AD transmission with variable expressivity
renal abnormalities with varying severity
unilateral/bilateral preauricular pits
external ear anomalies
HL (conductive, mixed, or snhl

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20
Q

what is BOR differential diagnosis

A

alport’s

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21
Q

what is a characteristic of chromosomal disorder?

A

have many different systems involved

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22
Q

multifactorial inheritance pattern:

A

affects many genes and environmental factors

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23
Q

complex is a predominantly unilateral malformation of craniofacial structures developing from 1st & 2nd branchial arches

A

OAV

24
Q

What is OAV

A

complex of 3 rare congenital disorders believed to be related to one another
range of severity affecting eyes, ears and vertebral system

25
Q

what are the 3 rare congenital disorders related to one another

A

goldenhar syndrome
hemifacial microsomia
OAV

26
Q

goldenhar syndrome
hemifacial microsomia
OAV

which is the most severe? which is the midlest?

A

golden har is severe
oav is mildest

27
Q

What is different about OAV and treacher collins?

A

OAV more unilateral and treacher collins doesn’t have the skeletal abnormalities or vision problem but this one does

28
Q

clinical features of OAV

A

asymmetry** vision loss, skeletal issues, conductive hearing loss, pinna abnormalities

29
Q

what does CHARGE stand for

A

coloboma
heart defects
atresia
retarded development
genital abnormalities (hypogonadism)
ear anomalies/deafness

30
Q

what is hypogonadism

A

underdeveloped sexual organs
clinically infertile

31
Q

does someone have to be blind and deaf to be called deafblind syndrome?

A

do not have to be completely deaf or completely blind, just if both systems are affected in any severity is it considered this
no matter the severity if you have issues with both systems it is considered this

32
Q

what is an example of deafblind syndrome

A

down syndrome
ushers
CHARGE

33
Q

what are clinical features of CHARGE

A

snhl and progressive
external ear anomolies
deaf blind syndrome
increased risk if father is older

34
Q

could be misdiagnosed as autism because of sensory deprivation

A

charge

35
Q

what type of HL is seen in charge?

A

majority is SNHL

36
Q

most common AR syndromic HL

A

usher syndrome

37
Q

what are the most common symptoms of usher syndrome

A

progressive HL and blindness associated with retinitis pigmentosa (develops around 2nd decade)

38
Q

what is retinitis pigmentosa

A

scarring of the retinal pigment layer with uneven gather of pigment nito clusters
initially periphery is affected then progresses to the center

39
Q

describe the vision loss seen in ushers

A

difficulty seeing at night in teen years
progressing to tunnel vision
progressing to blindness by 30-40

40
Q

Most common types of ushers in us

A

type I and II

41
Q

describe the 3 types of ushers

A

type I is the most severe - congenital severe to profound snhl

type II : hearing is affected with milder HL, vestib is unaffected

type III: very rare, has progressive vestibular dysfunction

42
Q

what is the differential diagnosis for ushers

A

norrie syndrome

43
Q

is the deaf community accepting of CI’s in ushers syndrome

A

yes

44
Q

what is neuropathy

A

dysfunction of the nerves, pain, tingling and auditory neuropathy

45
Q

what is auditory neuropathy

A

lack of understanding of speech

46
Q

what are other syndromes associated with RP and SNHL

A

Hallgren, Cockayne, Alstrum, & Refsum syndrome

47
Q

Hallgren, Cockayne, Alstrum, & Refsum syndrome all

A

all autosomal recessie, hl is snhl progressive, all progress to blindness, intellectual disability is common

48
Q

what are the symtpoms of norrie syndrome

A

visual problems, SNHL and dementia, and intellectual disability

49
Q

what is the inheritance of norrie syndrome

A

x linked recessive

50
Q

x linked from mom

A

M & F have 50% chance of having it from mom and only boys will manifest it

51
Q

x linked from dad

A

only girls get it and they will not manifest the phenotype (carriers)

52
Q

Norrie is a ____ phenotype

A

male, females will be carriers (x linked recessive)

53
Q

the most common cause of congenital retinal detachment

A

norrie syndrome

54
Q

differential diagnosis of norrie syndrome

A

usher
CMV infection
rubella

55
Q

differences between ushers and Norrie

A

Ushers is due to RP and norries is not

AUDE 5310 Embryology & Genetic Conditions (18 decks)

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