Genetic HL w/ External Ear Abnormalities & Eye Abnormalities

Question 1

what is mandibulofacial dysostosis

Answer 1

treacher collins syndrome

Question 2

what is the heredity of treacher collins syndrome

Answer 2

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

Question 3

is treacher collins syndrome a 1 & 2 branchial arch syndrome

Answer 3

yes

Question 4

what is a deletion mutation

Answer 4

codon is incorrectly read

Question 5

what is nonsense mutations

Answer 5

stop codon instead of another codon

Question 6

how do you read 5q31.3

Answer 6

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

Question 7

what is a teratogenic

Answer 7

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

Question 8

clinical features of treacher collins is characterized by

Answer 8

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

Question 9

FIRST PHARYNGEAL ARCH SYNDROME

Answer 9

treacher collins syndrome

Question 10

what is atresia

Answer 10

small ear canal

Question 11

what are audiologic findings of treacher collins

Answer 11

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

Question 12

can you fix treacher collins with a baha?

Answer 12

yes

Question 13

what is the differential diagnosis of treaacher collins

Answer 13

oculo-auriculo-vertebral spectrum (OAV) disorder

Question 14

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

Answer 14

dysostosis

Question 15

what is BOR

Answer 15

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

Question 16

second most common cause of AD HL

Answer 16

BOR

Question 17

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

Answer 17

BOR

Question 18

what is Mondini’s malformation

Answer 18

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

Question 19

what are characteristic findings of BOR

Answer 19

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

Question 20

what is BOR differential diagnosis

Answer 20

alport’s

Question 21

what is a characteristic of chromosomal disorder?

Answer 21

have many different systems involved

Question 22

multifactorial inheritance pattern:

Answer 22

affects many genes and environmental factors

Question 23

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

Answer 23

OAV

Question 24

What is OAV

Answer 24

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

Question 25

what are the 3 rare congenital disorders related to one another

Answer 25

goldenhar syndrome hemifacial microsomia OAV

Question 26

goldenhar syndrome hemifacial microsomia OAV which is the most severe? which is the midlest?

Answer 26

golden har is severe oav is mildest

Question 27

What is different about OAV and treacher collins?

Answer 27

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

Question 28

clinical features of OAV

Answer 28

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

Question 29

what does CHARGE stand for

Answer 29

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

Question 30

what is hypogonadism

Answer 30

underdeveloped sexual organs clinically infertile

Question 31

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

Answer 31

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

Question 32

what is an example of deafblind syndrome

Answer 32

down syndrome ushers CHARGE

Question 33

what are clinical features of CHARGE

Answer 33

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

Question 34

could be misdiagnosed as autism because of sensory deprivation

Answer 34

charge

Question 35

what type of HL is seen in charge?

Answer 35

majority is SNHL

Question 36

most common AR syndromic HL

Answer 36

usher syndrome

Question 37

what are the most common symptoms of usher syndrome

Answer 37

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

Question 38

what is retinitis pigmentosa

Answer 38

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

Question 39

describe the vision loss seen in ushers

Answer 39

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

Question 40

Most common types of ushers in us

Answer 40

type I and II

Question 41

describe the 3 types of ushers

Answer 41

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

Question 42

what is the differential diagnosis for ushers

Answer 42

norrie syndrome

Question 43

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

Answer 43

yes

Question 44

what is neuropathy

Answer 44

dysfunction of the nerves, pain, tingling and auditory neuropathy

Question 45

what is auditory neuropathy

Answer 45

lack of understanding of speech

Question 46

what are other syndromes associated with RP and SNHL

Answer 46

Hallgren, Cockayne, Alstrum, & Refsum syndrome

Question 47

Hallgren, Cockayne, Alstrum, & Refsum syndrome all

Answer 47

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

Question 48

what are the symtpoms of norrie syndrome

Answer 48

visual problems, SNHL and dementia, and intellectual disability

Question 49

what is the inheritance of norrie syndrome

Answer 49

x linked recessive

Question 50

x linked from mom

Answer 50

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

Question 51

x linked from dad

Answer 51

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

Question 52

Norrie is a ____ phenotype

Answer 52

male, females will be carriers (x linked recessive)

Question 53

the most common cause of congenital retinal detachment

Answer 53

norrie syndrome

Question 54

differential diagnosis of norrie syndrome

Answer 54

usher CMV infection rubella

Question 55

differences between ushers and Norrie

Answer 55

Ushers is due to RP and norries is not