Ent - Kj Lee 9Th Ed - Chapter 5 - Congenital Hearing Loss

Front 1

What is the frequency of deafness in newborns?

Back 1

1 per 1000 to 2000 births

Front 2

Approximately ___ % of childhood SNHL can be related to genetic factors. Of these, ___ % are due to syndromic causes.

Back 2

50% genetic; of these 30% are syndromic and 70% non-syndromic

Front 3

Most authors attribute ___% of genetic deafness to autosomal recessive and ___% to autosomal dominant.

Back 3

75-80% to autosomal recesive
18-20% to autosomal dominant
remainder classified as X-linked, or chomorosomal disorders

Front 4

Which is the syndrome?

Congenital cataract, cardiovascular anomalies, MR, retinitis, and deafness.

Back 4

Rubella syndrome

Front 5

Why do some kernicturus babies have severed deafness?

Back 5

About 20% of them will have severe deafness secondary to damage to the dorsal and ventral cochlear nuclei and the superior and inferior colliculi nuclei.

Will see bilateral SNLH, especially in the higher frequencies.

TX - exchange transfusion if serum bili >18-20mg/dl

Front 6

What are the two forms of congenital syphilis and how does hearing loss pressent in both?

Back 6

1) Early (infantile) - often severe and bilateral; usually have multisystem involvement and fatal outcome

2) Late (tardive) - if presents in early childhood, usually bilateral, sudden, severe and assoc. with vestibular sx (sx similar to Meniere's dz): The late-onset, sometimes as late as the 5th decade, has mild hearing loss.

Front 7

What are the two signs associated with congenital syphilis? Descrie them.

Back 7

1) Hennebert sign - consists of positive labyrinthine fistula test w/o clinical evidence of middle ear or mastoid dz or a fistula. Postulated that the vestibular stimulation is mediated by fibrous bands between the footplate and the vestibular membranous labyrinth. Another explanation is that the vestibular response is due to an excessively mobile footplate.

2) Tullio phenomenon - vertigo+nystagmus with high-intensity sounds. Occurs also in pts with semiciricular calanl fistula or dehiscence.

Front 8

What's the name of the syndrome?

High TSH, MR, retarded growth, mixed hearing loss in conjunction with congenital deafness

Back 8

Hypothyroidism

Front 9

Which gene mutations is particularly common in nonsyndromic deafness?

Back 9

30delG

Front 10

Which syndrome?

Pt has congenital hearing loss, branchial characteristics including ear pits and tags, or cervical fistula and renal involvment ranging from agenesis and renal failure to minor dysplasia.

Back 10

Branchio-Oto-Renal syndrome (AD)

Front 11

Which syndrome?

Cafe au lait spots, cutnaoeus neurofibromas, plexiform neuromas, pseudoarthrosis, Lisch nodules of the iris and optic gliomas.

Back 11

Neurofibromatosis Type I (AD) - acoustic neuromas are usualy unilateral and occur in only 5% of affected pt's. Hearing loss can also occur as a consequence of a neurofibroma encroaching on the middle or inner ear. Significant deafness is rare.

Due to desrupton of NF1 gene localized to chromosome 17p11.2

Front 12

Which syndrome?

Cafe au lait spots, bilateral acoustic neuromas, subcapsular cataracts.

Back 12

Neurofibromatosis Type II (AD) - bilateral acoustic neuromas are presents in 95% of affected pt's and are usualyl assx until early adulthood.

Due to desruption of NF2 gene localized to chromosome 22q12.2

Front 13

In osteogenesis imperfecta, which type of hearing loss is observer?

What is the subtype of OI in which progessive hearing loss begins in early childhood?

Back 13

(AD) Can be conductive, mixed or SNHL

Van der Hoeve syndrome

Front 14

What is the transmittance pattern of otosclerosis?

What are a couple theories as to why it happens?

Back 14

AD with dereased penetrance, so only 25-40% of gene carriers show the phenotype.

1) Females are more affected, possible hormone imbalance.
2) Measles viral particles have been identified withtin the bony overgrowth - possibilty of an interaction with the viral genome.

Front 15

Which syndrome?

Cleft palate, micrognathia, severe myopia, retinal detachments, cataracts and marfanoid habitus, SNHL or mixed HL.

Back 15

Stickler syndrome (AD) - most cases attributed to mutations in the COL2A1 gene on Ch12.

Front 16

Which syndrome?

facial malformations such as mala hypoplasia, downward slanting palpebral fissures, coloboma of the lower eyelids, hypoplastic mandible, malformations of the external ear or the ear canal, dental malocclusion and cleft palate. Facial features are bilateral and symmetrical.

Back 16

Treacher Collins Syndrome (AD) - CHL is present 30% of time but may have SNHL and vestiular dysfunction.

Genere responsible is TCOF1 gene on Ch5q

Front 17

Which syndrome?

Unilateral or bilateral SNHL in pt'sand the phenotypic expressions may include pigmentary anomalies (white forelock, heterchromia irides, premature graying and vitiligo) and craniofacial features (dystopia canthorum, broad nasal root, and synophrys).

Back 17

Waardenburg Syndrome (AD)- 4 types

Type 1 - congenital SNHL, eterochromia irides, white forelock, patchy hypopigmentation and dystopia canthorum.

Type 2 - differentiated by Type 1 by abscence of dystopia canthorum

Type 3 - is Type I + microcephaly, skeletal abnormalities and MR

Type IV - recesively inherited Type II + Hirschsprung dz (AKA Waardenburg-Shah syndrome or WS type IV)

SNHL is seen in 20% of pt's with Type 1 and >50% of pts with Type 2.

Front 18

Which syndrome?

Profound SNHL and cardiac arrhythmias.

Back 18

Jervell and Lange-Nielsen Syndrome (AR) - genetic defect caused by a mutation affecting a potassium channel gene that leads to conduction abnormalities in the heart, such as large T waves and QT prolongation. Get frequent EKG's and start propranolol.

Front 19

Which syndrome?

Profound SNHL and thyroid goiter

Back 19

Pendred syndrome (AR) - bilateral moderate to severe SNHL with some residual hearing in the low frequencies. HL is d/t abnormal iodine metabolism resulting in a euthyroid goiter.

Most patients have Mondini aplasia (flattened cochlia with fewer than 2.5 turns) or enlarged vestibular aqueduct.

Front 20

Which syndrome?

SNHL and retinitis pigmentosa

Back 20

Usher syndrome (AR) - MOST COMMON type of AR syndromic hearing loss! Syndrome affects ~ half of the 16,000 deaf and blind persons in the US. Three types:

Type I - congenital bilateral profound HL and absent vestibular function
Type II - moderate hearing losses and normal vestibular function
Type III - progressive hearing loss and variable vestibular function. Found primarily in the Norwegian population

Front 21

Which syndrome?

Progressive SNHLand renal failure

Back 21

Alport Syndrome (X-linked) - affects the collagen of the basement memranes of the kidneys and the inner ear.

Front 22

Which syndrome?

Progressive SNHL, specific ocular sx (pseudotumor of the retina, retinal hyperplasia, hypoplasia and necrosis of the inner layer of the retina, cataracts, phthisis bulbi) and mental disturbance.

Back 22

Norrie Syndrome (X-linked)

Front 23

Which syndrome?

Conductive HL, hypertelorism, craniofacial deformity involving supraorbital area, flat midface, small nose and cleft palate.

Back 23

Otopalatodigital syndrome (X-linked) - pts are short statured with broad fingers and toes that vary in length, with an ecessively wide space between the first and second toe. Conductive HL is seen d/t ossicular malformations.

Front 24

Which syndrome?

SNHL or mixed hearing impairment, fused cervical vertebrae, and CN VI paralysis causing retractof the eye on lateral gaze.

Back 24

Wildervanck syndrome (X-linked) - most commonly seen in females because of the high mortality associated with the X-linked dominant form in males.

(Klippel-Feil sign is congenital fusion of any 2 of the 7 vertebra)

Front 25

Which syndrome?

Postlingual sensorineural deafness in childhood followed by progressive dystonia, spasticity, dysphagia, and optic atrophy.

Back 25

Mohr-Tranebjaerg Syndrome (DFN-1) - (X-linked recessive) - resembles spinocerebellar degeneration called Friedreich ataxia, which has similar sx (although it has a cardiomyopathy component not seen in Mohr-Tranebjaerg)

Front 26

Which syndrome?

SNHL, peripheral neuropathy combined with foot prolems and "chmpagne bottle" calves.

Back 26

X-linked Charcot-Marie-Tooth

Front 27

Which syndrome?

Hemifacial microtia, otomandibular dysostosis, epibulbar lipodermoids, coloboma of upper lid, and vertebral anomalies.

Back 27

Oculoauriculovertebral Dysplasia (AKA Goldenhar Syndrome) - multifactorial

Front 28

Name three mitochondrial disorders which causes hearing loss.

Back 28

1) Kearns-Sayre (mitochondrial encephalopathy, lactic acidosis and stroke (MELAS)
2) Myoclonic epilepsy with ragged red fibers (MERRF)
3) Leber hereditary optic neuropathy

Front 29

Which type of inner ear structural malformations is described below?

Complete agenesis of the petrous portion of the temporal bone, although the external and middle ear may be unaffected. Normal inner structures are lacking, resulting in anacusis.

Back 29

Michel aplasia

Front 30

Which type of inner ear structural malformations is described below?

Developmentally deformed cochlea in which only the basal coil can be identified clearly. The upper coils assume a cloacal form and the interscalar septum is absent. The endoplymphatic duct is also usually enlarged.

Back 30

Mondini aplasia - may be associated with CMV. Often accompanied by abnormal communication between the endolymphatic and perilymphatic spaces of the inner ear and subarachnoid space..caused by a defect inthe cribriform area of the lateral end of the internal auditory canal.

A related anomaly, and more severe syndrome, the CHARGE syndrome: coloboma, heart dz, choanal atresia, retardation, genital hypoplasia, ear anomalies (including hypoplasia of the external canal and hearing loss); These individuals have a Mondini type deformity and abscence of semicircular canals.

Front 31

Which type of inner ear structural malformations is described below?

Normal bony labyrinth and superior portion of
membranous labyrinth. Organ of Corti is poorly differentiated with deformed tectorial membrane and collapsed Reissner’s membrane.

Back 31

Scheibe Aplasia (AKA Cochlear-Saccular Dysplasia or Pars Inferior Dysplasia)

Front 32

Which type of inner ear structural malformations is described below?

Limited cochlear duct differentiation at the
level of the basal coil. Has resultant effects on organ of Corti and ganglion cells.

Back 32

Alexander Aplasia - audiometricaly these pt's have high-freq hearing loss with adequate residual hearing in the low frequencies to warrant the use of amplification.

Front 33

Which type of inner ear structural malformations is described below?

Vestibular aqueduct meauring 1.5mm or greater. Sx include early-onset SNHL which is usually bilateral and often progressive and may be accompanied by vertigo.

Back 33

Enlarged Vestibular Aqueduct Syndrome (EVAS) - may present as fluctuating SNHL.

Conservative management includes avoidance of head trauma and contact sports.

Front 34

Describe the formation of the semicircular canals and also malformations that can occur.

Back 34

Formation begins in the 6th gestational week.

The superior canal is formed first and the lateral canal is formed last.

Isolated lateral canal defects are the most commonly identified inner ear malformations identified on temporal bone imaging.

Superior semicircular canal deformities are always accompanied by lateral semicircular canal deofrmaities, whereas lateral canal deformaties often occur in isolation.

Theseaccount for rougly 20% of congenital deafness.

Front 35

Which syndrome?

SNHL + Inherited defect of melanin production

Back 35

Albinism with Blue Irides (AD or AR)

Front 36

Which syndrome?

1. AD
2. Small dystophic nails
3. Coniform teeth
4. Elevated sweat electrolytes
5. SNHL

Back 36

Ectodermal Dysplasia (hidrotic) - keep inmind that anhidrotic ectodermal dsplasiais sex-linked recessive with a mixed or conductive HL

Front 37

Which syndrome?

1. AD
2. Lentigines
3. Mitral insufficiency
4. Skeletal malformations
5. CHL

Back 37

Forney syndrome

Front 38

Which syndrome?

1. AD
2. Brown spots on the skin, beginning at age 2 yrs
3. Ocular hypertelorism
4. Pulmonary stenosis
5. Abnormalities of the genitalia
6. Retarded growth
7. SNHL

Back 38

Lentigines

Front 39

Which syndrome?

1. AD with variable penerance
2. Variable SNHL
3. Ocular hypertelorism
4. Pulmonary stenosis
5. Hypogonadism
6. ECG changes with widened QRS or BBB
7. Retarded growth
8. Normal vestibular apparatus
9. Lentigines
10. Skin changes progrssively over the first and second decades

Back 39

Leopard syndrome

Front 40

Which syndrome?

1. Sex linked or AR
2. Blur irides
3. Fine retinal pigmentation
4. Depigmentation of scalp, hair, face, limbs and trunk
5. SNHL

Back 40

Piabaldness

Front 41

Which syndrome?

1. AD
2. Profound deafness
3. Albinism
4. Eyebrows absent
5. Blue irides
6. No photophobia or nystagmus

Back 41

Tietze syndrome

Front 42

Which syndrome?

1. AD with variable penetrance
2. Contributes 1% - 7% of all hereditary deafness
3. Wideley spaced medial canthi (present in all cases)
4. Flat nasal root in 75% of cases
5. Confluent eyebrow
6. SNHL - unilateral or bilateral (present in 20%)
7. Colored irides
8. White forelock
9. Areas of depigmentation (10% of pts)
10. Abnormal tyrosine metabolisms
11. Diminshed vestibular fnct (75% of pts)
12. Cleft lip and palate (10% of pts)

Back 42

Waardenburg disease

Front 43

Which syndrome/disease?

1. AD
2. Large head and short extremities
3. Dwarfism
4. Mixed hearing loss
5. Saddle nose, frontal and mandibular prominence

Back 43

Achondroplasia

Front 44

Which syndrome/disease?

1. AD
2. Syndactylia
3. Flat CHL secondary to stapes fixation
4. Patent cochlear aquaduct histologically
5. Frontal prominence, exophthalmos
6. Craniofacial dysostosis, hypoplastic maxilla
7. Proptosis, saddle nose, high-arched palate, occasionally spina bifida
8. Occurs in about 1:150,000 live births

Back 44

Apert disease (acrocephalosyndactyly)

Front 45

Which syndrome/disease?

1. AD
2. Unilateral or bilateral involvement
3. Middle ear abnormalities with CN7 anomaly
4. Internal hydrocephalus
5. MR
6. Epilepsy
7. Choanal atresia and cleft palate

Back 45

Atresia auris congenital

Front 46

Which syndrome/disease?

1. AD
2. Absent or hypoplastic clavicle
3. Failure of fontanelles to close
4. SNHL

Back 46

Cleidocranial dysostosis

Front 47

Which syndrome/disease?

1. AD
2. Hearing loss in 1/3 of cases
3. Mixedhearing loss in some cases
4. Cranial synostosis
5. Exophthalmos and divergent squint
6. Parrot-beaked nose
7. Short upper lip
8. Mandibular prognathism and small maxilla
9. Hypertelorism
10. External auditory canal sometimes atretic
11. Congenital enlargement of the sphenoid bone
12. Premature closure of the cranial suture lines, sometimes leading to MR

Back 47

Crouzon dz (craniofacial dysostosis)

Front 48

Which syndrome/disease?

1. AD recessive
2. Progressive mixed hearing loss
3. Progressive cortical thickening of diaphyseal regions of long bones and skull

Back 48

Engelmann syndrome (diaphyseal dysplasia)

Front 49

Which syndrome/disease?

1. AD
2. Congenital flexion conracture of fingers and toes
3. SNHL

Back 49

Hand-Hearing syndrome

Front 50

Which syndrome/disease?

1. AR or dominant
2. Incidence in female subjects greater than in males
3. SNHL along with middle ear anomalies
4. Short neck due to fused cervical vertebrae
5. Spina bifida
6. External audtory canal atresia

Back 50

Klippel-Feil (Brevicollis, Wildervanck) Syndrome

Front 51

Which syndrome/disease?

1. AD
2. Short stature
3. Ulna and elbow dislocation
4. CHL secondary to ossicular malformation with normal TM and external auditory canal
5. Spina bifida occulta
6. Female to male ratio 4:1

Back 51

Madelung deformity (related to dyschondrosteosis of Leri-Weill)

Front 52

Which syndrome/disease?

1. AD
2. Thin, elongated individuals with long spidery fingers
3. Pigeon breast
4. Scoliosis
5. Hammer toes
6. Mixed hearing loss

Back 52

Marfan syndrome (arachnodactyly, ectopia lentis, deafness)

Front 53

Which syndrome/disease?

1. AR
2. CHL
3. Cleft lip, high-arched palate
4. Lobulated nodular tongue
5. Broad nasal root, bifid tip of nose
6. Hypoplasia of the body of the mandible
7. Polydactyly and syndactyly

Back 53

Mohr syndrome (Oral-Facial-Digital Syndrome II)

Front 54

Which syndrome/disease?

1. AR (rare dominant transmission has been reported)
2. Conductive or mixed HL
3. Fluctuating facial nerve paralysis
4. Sclerotis, brittle bone due to failure of resorption of calcified cartilage
5. CN II, V, VII involved sometimes
6. Optic atrophy
7. Atresia of paranasal sinuses
8. Choanal atresia
9. Increased incidence of osteomyelitis
10. Widespread form: may lead to obliteration of bone marrow, severe anemia and rapid demise
11. Hepatosplenomegaly possible

Back 54

Osteopetrosis (Albers-Schonberg dz, Marbe Bone dz)

Front 55

Which syndrome/disease?

1. AD
2. Depressed nasalroot
3. Protruding narrow nose
4. Narrow elongated face
5. Flattened maxillar and zygoma
6. Prominent ears
7. Preauricular fistula
8. Poorly developed neck muscles
9. CHL

Back 55

Oto-Facial-Cervical syndrome

Front 56

Which syndrome/disease?

1. AR
2. CHL
3. Mild dwarfism
4. Cleft palate
5. MR
6. Broad nasal root, hypertelorism
7. Frontal and occiptal bossing
8. Small mandible
9. Stubby, clubbed ditis
10. Low-set small ears
11. Winged scapulae
12. Malar flattening
13. Downward obliquity of eye
14. Downurned mouth

Back 56

Oto-Palatal-Digital syndrome

Front 57

Which syndrome/disease?

1. AD with variable penetrance
2. Mainly SNHL but mixed HL as well
3. Occasional CN involvement
4. Onset usually at middle age, involving skull and long bones of the legs
5. Endochondral bone (somewhat resistant to this dz)

Back 57

Paget dz (Osteitis deformans)

Front 58

Which syndrome/disease?

1. AD with variable penetrance (possibly not hereditary but d/t intrauterine insult)
2. Occurs in 1:30,000 to 1:50,000 live births
3. Glossoptosis
4. Micrognathia
5. Cleft palate (in 50% of case)
6. Mixed HL
7. Malformed auricles
8. MR
9. Hypoplastic mandible
10. Mobius syndrome
11. Subglottic stenosis not uncommon
12. Aspiration a common cause of death

Back 58

Pierre Robin Syndrome (Cleft Palate, Micrognathia and Glossoptosis)

Front 59

Which syndrome/disease?

1. AD (less often AR)
2. CHL can begin at any age. It is progressive and secondary to fixation of the stapes or other ossicular abnormalities. Mixed hearing loss also possible
3. CN palsy secondary to narrowing of the foramen
4. Splayed appearance of long bones
5. Choanal atresia
6. Prognathism
7. Optic atrophy
8. Obstruction of sinuses and nasolacrimal duct

Back 59

Pyle dz (Craniometaphyseal dysplasia)

Front 60

Which syndrome/disease?

1. Not hereditary
2. Retinal detachment, cataracts, myopia, coxa vara, kyphoscoliosis, retardation
3. Proressive SNHL

Back 60

Roaf syndrome

Front 61

Which syndrome/disease?

1. AD
2. Ankylosis of proximal interphalangeal joint
3. CHL early in life

Back 61

Dominant Proximal Symphalangia and Hearing Loss

Front 62

Which syndrome/disease?

1. AD and intrauterine abuse
2. Antimongoloid palpebral fissures with notched lower lids
3. Malformation of ossicles (stapes usually normal)
4. Auricular deformity, atresia of external auditory canal
5. CHL
6. Preauricular fistulas
7. mandibular hypoplasia and malar hypolasia
8. "Fishmouth"
9. Normal IQ
10. Usually bilateral involvement
11. May have cleft palate or lip
12. Arrest in embryonic development at 6-8 weeks to give the above findings

Back 62

Treacher Collins Syndrome (Mandibulofacial Dysostosis; Franceschetti-Zwahlen-Klein Syndrome)

Front 63

Which syndrome/disease?

1. AR
2. Generalized osteosclerrotic overgrowth of skeleton including skull, mandible, ribs and long and short bones
3. Cranial nerve palsies due to obstruction of the foramina
4. Increased serum akaline phosphatase
5. Progressive SNHL

Back 63

van Buchem Syndrome (Hyperostosis Corticalis Generalisata)

Front 64

Which syndrome/disease?

1. AD with variable expressivity
2. Fragile bones, loose ligaments
3. Blue or clear scalara, triangular facies, dentinogenesis imperfecta
4. Blue sclera and HL are seen in 60% of cases and are most frequently noted after age 20. HL is conductive and is due to stapes fixation by otosclerosis. HL also can be d/t ossicular fracture.
5. The basic pathologic defect is "abnormal osteoblastic activity"
6. When operating on such a pt, it is important to avoid fracture of the tympanic ring or the long process of the incus. It is also important to realize that the stapes footplate may be "floating"
7. The sclera mayhave increased mucopolysaccharide content
8. These patients have normal calcium, phosphorus, and alkaline phosphatase in the serum
9. Occasionally, capillary fragility is noted.

Back 64

van der Hoeve Syndrome (Osteogenesis Imperfecta)

Front 65

Which syndrome/disease?

1. AD
2. Progressive SNHL during the 2nd or 3rd decade of life
3. Ataxia, visual loss
4. No cafe au lait spots

Back 65

Acoustic Neuromas (inherited)

Front 66

Which syndrome/disease?

1. AD
2. Progressive nephritis and SNHL
3. Hematuria, proteinuria veginning the first or second decade of life
4. Men with this dz usually die or uremia by age 30. Women are less severely affected.
5. Kidners are affected by chronic glomerulonephritis with interstitial lymphocytic infiltrate and foam cells
6. Progressive SNHL begins at age 10. Although it is not considered sex linked, HL affects almost all male but not all female subjects. Histologically, degeneration of the organ of Corti and stria vascularis is observed.
7. Spherophalera cataract
8. Hypofunction of the vestibular organ
9. Contributes to 1% of hereditary deafness

Back 66

Alport Syndrome

Front 67

Which syndrome/disease?

1. AR
2. Retinal degeneration giving rise to visual loss
3. Diabetes, obesity
4. Progrssive SNHL

Back 67

Alstrom syndrome

Front 68

Which syndrome/disease?

1. AR
2. Dwarfism
3. MR
4. Retinal atrophy
5. Motor disturbances
6. Progressive SNHL bilaterally

Back 68

Cockayne syndrome

Front 69

Which syndrome/disease?

1. About 35% present with congenital HL of the mixed type (irreversible)
2. Goiter (hypothyroid)
3. MR and physical retardation
4. Abnormal development of the petrous pyramid
5. This dz is not inherited in a specific Mendelian manner. It is restricted to a certain geographic locale where a dietary deficiency exists...

Back 69

Congenital Cretinism - must be distinguished from Pendred syndrome

Front 70

Which syndrome/disease?

1. AD (some sex-linked recessive)
2. Inability to abduct eyes, retract globe
3. Narrowing of palpebral fissued
4. Torticollis
5. Cervical rib
6. CHL

Back 70

Duane syndrome

Front 71

Which syndrome/disease?

1. AR
2. Absent or deformed thumb
3. Other skeletal, heart and kidney malformations
4. Increased skin pigmentation
5. MR
6. Pancytopenia
7. CHL

Back 71

Fanconi Anemia Syndrome

Front 72

Which syndrome/disease?

1. AR
2. Progresive visual & SNHL

Back 72

Fehr Corneal Dystrophy

Front 73

Which syndrome/disease?

1. AD
2. Progressive myopia, cataracts, RP
3. Progressive SNHL
4. Ataxia
5. Shooting pain in the joints

Back 73

Flynn-Aird Syndrome

Front 74

Which syndrome/disease?

1. AR
2. Chilhood onset of nystagmus, ataxia, optic atrophy, hyperreflexia and SNHL

Back 74

Friedreich Ataxia

Front 75

Which syndrome/disease?

1. AR
2. Epidural dermoids
3. Preauricular appendages
4. Fusion or absence of cervical vertebrae
5. Colobomas of the eye
6. CHL

Back 75

Goldenhar Syndrome

Front 76

Which syndrome/disease?

1. AR
2. RP
3. Progressive ataxia
4. MR in 25%
5. SNHL
6. Consitues about 5% of hereditary deafness

Back 76

Hallgren Syndrome

Front 77

Which syndrome/disease?

1. AD
2. Onset of photomyoclonus and SNHL during late childhood or adolescence
3. DM
4. Progressive dementia
5. Pyelonephritis and glomerulonephritis

Back 77

Hermann Syndrome

Front 78

Which syndrome/disease?

1. AR
2. Abnormal mucopolysaccharides are deposited in tissues (when mucopolysaccharides are deposited in the neurtrophils they are called Adler bodies); middle ear mucosa with large foamy gargoyle cells staining PAS-positive
3. Chondroitin sulfate B and heparitin in urine
4. Forehead prominence with coarsening of the facial features and low-set ears
5. MR
6. Progressive corneal opacities
7. Hepatosplenomegaly
8. Mixed hearing loss
9. Dwarfism
10. Cerebral storage of three gangliosides: GM1, GM2, GM3
11. Beta-galactosides deficient

Back 78

Hurler Syndrome (Gargoylism)

(FYI, Hunter syndrome has same signs, except it's sex linked, not AR)

Front 79

Which syndrome/disease?

1. AR
2. Profound bilateral SNHL (high frew more severely impaired)
3. Associated with heart dz (prolonged QT interval on ECG) and Stokes-Adams dz
4. Recurrent syncope
5. usually termiantes fatally with sudden death
6. Histopathologically, PAS-positive nodules in the cochlea

Back 79

Jervell and Lange-Nielsen Syndrome

Front 80

Which syndrome/disease?

1. AR
2. Dwarfism
3. Obesity
4. Hypogonadism
5. RP
6. MR
6. SNHL

Back 80

Laurence-Moon-Bardet-Biedl Syndrome

Front 81

Which syndrome/disease?

1. AR
2. MR in 50%
3. Low set ears
4. CHL

Back 81

Malformed Low-Set Ears and CHL (recessive)

Front 82

Which syndrome/disease?

1. AD with variable penetrance
2. CHL, usualy due to fixation of the stapes
3. Narrow external auditory canal
4. Fusion of the cervical vertebrae and the carpal and tarsal bones

Back 82

Mitral Insufficiency, Joint Fusion, and Hearing Loss (Dominant)

Front 83

Which syndrome/disease?

1. AD recessive
2. Facial diplegia
3. External ear deformities
4. Ophthalmoplegia
5. Hands or feet sometimes missing
6. MR
7. Paralysis of the tongue
8. Mixed HL

Back 83

Mobius Syndrome (Congenital Facial Diplegia)

Front 84

Which syndrome/disease?

1. AD
2. Saddle nose
3. Sever myopia
4. Juvenile cataracts
5. SNHL that is pogressive, moderately severe and of early onset

Back 84

Saddle Nose, Myopia, Cataract, and Hearing Loss (dominant)

Front 85

Which syndrome/disease?

1. AR
2. Congenital blindness due to pseudotumor retini
3. Progressive SNHL in 30%

Back 85

Norrie Syndrome

Front 86

Which syndrome/disease?

1. AR
2. Variable amount of bilateral HL secondary to atrophy of the organ or Corti. A U-shaped audiogram is often seen.
3. Patients are euthyroid and develop diffuse goiter at the time of puberty. It is said that the metabolic defect is faulty iodination of tyrosine
4. Positive PERCHLORATE test
5. The goiter is treated with exogenous hormone to suppress thyroid-stimulating hormone secretion
6. Normal IQ
7. Unlike congenital cretinism, the bony petrous pyramid is well developed
8. Constitutes 10% of hereditary deafness

Back 86

Pendred Syndrome

Front 87

Which syndrome/disease?

1. AR
2. RP
3. Polyneuropathy
4. Ataxia
5. SNHL
6. Visual impairment usually beginning in the 2nd decade
7. Ichthyosis often present
8. Elevated plasma phytanic acid level
9. Etiology: neuronal lipid storage dz and hypertrophic polyneuropathy

Back 87

Refsum disease (Heredopathia Atactica Polyneuritiformis)

Front 88

Which syndrome/disease?

1. AR
2. Renal hypoplasia
3. Internal genital malformation
4. Middle ear malformation
5. Moderate to severe CHL

Back 88

Renal, Genital, and Middle Ear Anomalies (recessive)...

Front 89

Which syndrome/disease?

1. AR
2. Mental deficiency
3. Hypogonadism (decreased urinary estrogen, pregnanediol, and total 17-ketosteroids)
4. Ataxia
5. Horizontal nystagmus to bilateral gazes
6. SNHL beginning during infancy
7. Muscle wasting during early childhood and absent deep tendon reflexes

Back 89

Richards-Rundel Syndrome

Front 90

Which syndrome/disease?

1. AR
2. Unilatearl microtia or anotia
3. Unilatearl facial bone hypoplasia
4. CHL

Back 90

Taylor syndrome

Front 91

Which syndrome/disease?

1. Low-set pinnae
2. Atresia of EAC
3. Cleft lip and cleft palate
4. Colobomas of the eyelids
5. Micrognathia
6. Tracheoesophageal fistula
7. Hemangiomas
8. CHD
9. MR
10. Mixed hearing loss
11. Hypertelorism
12. Incidence is 0.45:1000 lives birth
13. Usually die early in childhood.

Back 91

Trisomy 13 to 15; Patau Syndrome

Front 92

Which syndrome/disease?

1. Low-set pinnae
2. Atresia of EAC
3. Micrognathia, high-arched palate
4. Peculiar finger position
5. Prominent occiput
6. Cardiac anomalies
7. Hernias
8. Pigeeon breast
9. Mixed HL
10. Incidence is 0.25-2:1000 live births
11. Ptosis
12. Usually die early in life

Back 92

Trisomy 16 to 18

Front 93

Which syndrome/disease?

1. MR
2. Short stature
3. Brachycephaly
4. Flat occiput
5. Slanted eyes
6. Epicanthus
7. Strabismus, nystagmus
8. Seen in association with leukemia
9. Subglottic stenosis not uncommon
10. Decreaed pneumatized or absent frontal and sphenoid sinuses
11. Incidence is 1:600 live births

Back 93

Trisomy 21 or 22 (Down syndrome; G Trisomy)

Front 94

Which syndrome/disease?

1. Not inherited due to intrauterine insult
2. Low hairline
3. XO; 80% sex chromatin negative
4. Webbing of neck and digits
5. Widely spaced nipples
6. Gonadal aplasia
7. Incidence is 1:5000 live births (Klinefelter syndrome is XXY)
8. Ossicular deformities
9. Low-set ears
10. Mixed HL
11. Large ear lobes
12. Short stature
13. Abnormalities in the heart and kidney
14. Some with hyposmia

Back 94

Turner Syndrome

Front 95

Which syndrome/disease?

1. AD
2. Recurent urticaria
3. Amyloidosis
4. Progressive SNHL due to degeneration of the organ of Corti; ossification of the basilar membrane
5. Usually die of uremia

Back 95

Urticaria, Amyloidosis, Nephritis, and Hearing Loss (Dominant)

Front 96

Which syndrome/disease?

1. AD
2. Nephritis
3. Hearing Loss

Back 96

Well Syndrome

Front 97

Which syndrome/disease?

1. AR
2. RP giving rise to progressive visual loss. The pt is usually completely blind by the 2nd or 3rd decade
3. Pt's usually born deaf secondary to atrophy of the organ of Corti. Hearing for low frequencies is present in some pt's.
4. Ataxia and vestibular dysfunction are common.
5. Constitutes 10% of hereditary deafness
6. Has four types.

Back 97

Usher Syndrome (Recessive Retinitis Pigmentosa with Congenital Severe Deafness)

Among all congenital deafness syndromes, usher syndrome is most likely to include vestibular symptoms

Four types include:
Type I: Profund congenital deafness with onset of RP by 10; has no vestibular response; constitutes 90% of all cases of Usher syndrome
Type II: Moderate to severe congenital deafness with the onset of RP in late teens or early twenties; normal or decreased vestibular response; constitutes 10% of all cases
Type III: Progressive hearing loss; RP begins at puberty; constitutes less than 1% of all cases (types I, II and III are AR)
Type IV: X-linked inheritance; phenotype similar to type II

Front 98

What are the three classifications of congenital middle and external ear deformities?

Back 98

Class I -
a) normal auricle in shape and size
b) Well-pneumatized mastoid and middle ear
c) ossicular abnormality
d) most common type

Class II
a) microtia
b) atretic canal and abnormal ossicles
c) normal aeration of mastoid and middle ear

Class III
a) microtia
b) atretic canal and abnormal ossicles
c) middle ear and mastoid poorly aerated
- the external ear deformity does not necessarily correlate with midle ear abnormality
- Pt's with congenitally fixed footplate have the following characteristics that differentiate them from pt's w/ otosclerosis:
i) onset during childhood
ii) nonprogressive
iii) negative family hx
iv) flat 50-60dB CHL
v) Carhart notch not present
vi) Schwartze sign not present

Front 99

An audiogram that is U-shaped or cookie bite should alert the clinician to what kind of hearing loss?

Back 99

Hereditary

Front 100

Which congenital hearing loss syndrome has a positive perchlorate discharge test?

Back 100

Pendred syndrome

Front 101

Which congenital hearing loss syndrome has prolonged QT intervall on ECG?

Back 101

Jervell & Lange-Nielsen syndrome