Bilateral Congenital Profound Sensorineural Hearing Loss & Ear Deformity: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Bilateral Congenital Profound Sensorineural Hearing Loss, Ear Deformity,

Negated

None

Unsure

None

Possible Causes

Microtia

Microtia and Other Ear Deformities Congenital ear deformities occur in many different syndromes or alone. [cranioutah.com]

[…] canals, and bilateral profound sensorineural hearing loss (HL). [ncbi.nlm.nih.gov]

Microtia is an ear deformity that occurs once in every 6,000-12,000 births. [verywellhealth.com]

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Congenital Deafness

A case illustrating close resemblance between a genetically induced Scheibe malformation and rubella inner ear deformities is present. [ncbi.nlm.nih.gov]

hearing loss ranges from mild to profound hearing loss. [wvdhhr.org]

Scientists in Australia have discovered that approximately 50 percent of farm-bred salmon have a deformed otolith, the fish’s ear bone, which very likely gives them hearing [audiology.org]

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Deafness

These included a history of pre-implant meningitis, congenital inner ear deformity, and basilar skull fracture. [web.archive.org]

Mumps (Epidemic parotitis) may result in profound sensorineural hearing loss (90 dB or more), unilateral (one ear) or bilateral (both ears). congenital rubella (also called [en.wikipedia.org]

Sensorineural total deafness may occur as a result of congenital deformities, inner ear infections, or head trauma. 3) Mixed hearing loss This is a combination of conductive [medicalnewstoday.com]

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Tricho-Retino-Dento-Digital Syndrome

In high-grade mandibular deformity (ie, type IIB, type III), deferring ear construction until skeletal symmetry is achieved (usually after age 10 y) is recommended. [emedicine.medscape.com]

Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Ears]; Bilateral congenital profound sensorineural hearing loss; [Mouth]; Diastema; [Teeth]; Oligodontia Ehlers-Danlos [findzebra.com]

A systematic approach focuses on the hypoplastic mandible as the key to the management of the deformity. [emedicine.medscape.com]

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Autosomal Recessive Deafness 24

A CT scan of the right ear revealed deformation and fusion of the malleus and incus. The right vestibule was found to be bulbous and mildly dilated. [audiologyonline.com]

[…] born with profound congenital deafness. [vdocuments.site]

Classical mondini inner ear deformity includes a reduce number of turns of cochlea, enlarged vestibule, abnormal semicircular canal and enlarged vestibular aqueduct 37. [ayubmed.edu.pk]

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Autosomal Recessive Deafness 23

A CT scan of the right ear revealed deformation and fusion of the malleus and incus. The right vestibule was found to be bulbous and mildly dilated. [audiologyonline.com]

[…] born with profound congenital deafness. [vdocuments.site]

Classical mondini inner ear deformity includes a reduce number of turns of cochlea, enlarged vestibule, abnormal semicircular canal and enlarged vestibular aqueduct 37. [ayubmed.edu.pk]

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Autosomal Recessive Deafness 38

A CT scan of the right ear revealed deformation and fusion of the malleus and incus. The right vestibule was found to be bulbous and mildly dilated. [audiologyonline.com]

[…] born with profound congenital deafness. [vdocuments.site]

Classical mondini inner ear deformity includes a reduce number of turns of cochlea, enlarged vestibule, abnormal semicircular canal and enlarged vestibular aqueduct 37. [ayubmed.edu.pk]

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Non-Syndromic Ocular Stickler Syndrome Type 1

Superior semicircular canal deformities are always accompanied by lateral semicircular canal deformities. [juniperpublishers.com]

[…] type 1 patients have congenital bilateral profound hearing loss and absent vestibular function d) type 2 patients have moderate losses and normal vestibular function. e) [juniperpublishers.com]

Recessive inheritance is also possible Semicircular Canal Malformations Isolated lateral canal defects -most common inner ear malformations-identified on temporal bone imaging [juniperpublishers.com]

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Autosomal Recessive Deafness 103

A CT scan of the right ear revealed deformation and fusion of the malleus and incus. The right vestibule was found to be bulbous and mildly dilated. [audiologyonline.com]

[…] born with profound congenital deafness. [vdocuments.site]

A dedicated thin cut CT or MRI of the temporal bones is useful for detecting malformations of the inner ear (i.e., Mondini deformity, Michel aplasia, enlarged/dilated vestibular [ncbi.nlm.nih.gov]

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Autosomal Recessive Deafness 22

Classical mondini inner ear deformity includes a reduce number of turns of cochlea, enlarged vestibule, abnormal semicircular canal and enlarged vestibular aqueduct 37. [ayubmed.edu.pk]

[…] born with profound congenital deafness. [vdocuments.site]

Patients with the common Down's syndrome (Trisomy 21), often have inner ear malformations. [dizziness-and-balance.com]

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Autosomal Dominant Deafness 33

Classical mondini inner ear deformity includes a reduce number of turns of cochlea, enlarged vestibule, abnormal semicircular canal and enlarged vestibular aqueduct 37. [ayubmed.edu.pk]

[…] born with profound congenital deafness. [docslide.net]

Patients with the common Down's syndrome (Trisomy 21), often have inner ear malformations. [dizziness-and-balance.com]

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Hereditary Hyperekplexia

[…] of middle thumb and index finger with deformity, and scoliosis. [pediatricneurosciences.com]

Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized [amp.pharm.mssm.edu]

He had minor dysmorphic features in the form of high arched palate, prominent ears, flat bridge of nose, small eyes, malformation of both hands in the form of undue separation [pediatricneurosciences.com]

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Pendred Syndrome

It is prevalent in children and early signs of this condition include gradual loss of hearing in both ears as the inner ear becomes deformed. [privatehealth.co.uk]

Sensorineural hearing loss is usually congenital, severe to profound and non-progressive. However, hearing loss may be later onset and progressive in some patients. [asperbio.com]

A typical inner ear deformation, termed Mondini malformation, is an abnormality of the cochlear that is characterized by an abnormally short and flat cochlear structure (9 [spandidos-publications.com]

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Suppurative Labyrinthitis

[…] as Mondinis deformity. [geoutreach.org]

Patients with recurrent meningitis and congenital malformations of the inner ear may undergo vestibule obliteration. 14 All patients acquiring bilateral severe-to-profound [entokey.com]

In patients with meningitis following ASOM, particularly if the history of meningitis has been recurrent, it is also important to exclude a congenital inner ear defect such [geoutreach.org]

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Craniodiaphyseal Dysplasia

The air spaces of the mastoid, external auditory canal, and middle ear cavity are reduced by hyperostotic bone. The ossicles are also deformed by the bony overgrowth. [ncbi.nlm.nih.gov]

ear cavity and external auditory canal by hyperostotic bone Facial diplegia Dysfunction of facial nerves Problems in air conduction, due to anomalous ossicles with hyperostosis [primehealthchannel.com]

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Vestibular Aqueduct Dilated

Associated defects * Long narrow faces. * Facial paralysis. * Cysts/ fistulas of the neck. * Constricted palates/ Cleft. * Deep overbite. * Ear pits. * Lop ear deformity. [thecainfoundation.com]

The incidence of SLC26A4 related hearing loss is approximately 1 in 7500 and variants in this gene may cause up to 5-10% of congenital hearing loss. [personalizedmedicine.partners.org]

Enlarged vestibular aqueducts often occur with other inner ear development problems, such as cochlear deformities. [en.wikipedia.org]

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Hypergonadotropic Hypogonadism-Cataract Syndrome

[…] pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy). - often also cryptorchidism, mental retardation, and chest deformity -auto. dominant disorder that [quizlet.com]

SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. [ncbi.nlm.nih.gov]

Autosomal dominant mutation on chromosome 12 -- - short stature, shortened 4th metacarpals - hyperelastic skin, ptosis, low-set ears - Right-sided heart abnormalities (particularly [quizlet.com]

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Infantile Refsum Disease

deformity) to hepatomegaly, as well as renal cysts. [doi.org]

Retinitis pigmentosa and sensorineural hearing loss Usher syndrome type I is characterized by a congenital, bilateral, profound sensorineural deafness, vestibular areflexia [ncbi.nlm.nih.gov]

[…] muscular hypotonia, failure to thrive, seizures) and typical dysmorphic features (large fontanelle, wide sutures, high forehead, hypertelorism, broad nasal bridge, external ear [doi.org]

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Jervell-Lange-Nielsen Syndrome Type 2

[…] colic salivary duct carcinoma salivary fistula salivation salpingopharyngeus muscle salty salvage surgery sanguineous nasal discharge Santorini fissure sarcoidosis satyr ear [upslide.site]

The second symptom is a congenital bilateral profound sensorineural hearing loss. [hearinghealthmatters.org]

It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an [ncbi.nlm.nih.gov]

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Mild Dysmorphic Features

ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q18- Other congenital [icd10data.com]

Features in 3 of 3 of the affected males included bilateral congenital severe-profound sensorineural hearing loss (SNHL); mild facial dysmorphisms with telecanthus and unusual [nature.com]

[…] and chromosomal abnormalities Q10-Q18 2019 ICD-10-CM Range Q10-Q18 Congenital malformations of eye, ear, face and neck Type 2 Excludes cleft lip and cleft palate ( Q35-Q37 [icd10data.com]

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Waardenburg Syndrome

Additional anomalies of the inner ear were observed including the enlarged vestibular aqueduct (EVA), common cavity deformity (CCD), incomplete partition type II (IP-II). [tandfonline.com]

In our case, all six siblings have bilateral congenital profound sensorineural hearing loss which was proven by auditory brainstem response test (ABR), since this test was [jmedicalcasereports.biomedcentral.com]

Conclusions The inner ear abnormalities we characterized in our patients (SCC agenesis or maldevelopment, enlarged vestibule, and cochlear deformity [hypoplastic, flattened [ajnr.org]

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Hirschsprung Disease - Deafness - Polydactyly Syndrome

The skin texture of our patient was normal and she had no external ear/eye anomalies, skeletal deformities, or cerebral or renal malformations. [jmedicalcasereports.biomedcentral.com]

When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome. [emedicine.medscape.com]

deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome? [link.springer.com]

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Ocular Albinism with Congenital Sensorineural Deafness

Microtia - Congenital Ear Institute evaluates and operates hundreds of children born with a congenital ear deformity known as microtia/atresia ... [ibis-birthdefects.org]

profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. [mendelian.co]

When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome. [emedicine.medscape.com]

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Jervell-Lange-Nielsen Syndrome

[…] colic salivary duct carcinoma salivary fistula salivation salpingopharyngeus muscle salty salvage surgery sanguineous nasal discharge Santorini fissure sarcoidosis satyr ear [upslide.site]

[…] auricular fissure auricular hematoma auricular muscle auropalpebral reflex autism autoimmune disease autoimmune inner ear disease autoimmune labyrinthitis autoimmune sensorineural [upslide.site]

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Ectodermal Dysplasia-Sensorineural Deafness Syndrome

middle ear deformities, and incomplete pneumatization of the temporal bone. [en.wikipedia.org]

When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome. [emedicine.medscape.com]

Ears, and Other Abnormalities Thumb Deformity and Alopecia Trichodental Dysplasia Trichodentoosseous Syndrome Trichoodontoonychial Dysplasia with Bone Deficiency Trichorhinophalangeal [nfed.org]

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Dilated Cardiomyopathy Type 1J

Patients with the common Down's syndrome (Trisomy 21), often have inner ear malformations. [dizziness-and-balance.com]

bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. [refsumdisease.org]

The neck is usually webbed (pterygium colli) and the ears low-set. The sternum may be deformed. [disorders.eyes.arizona.edu]

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Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

choanal atresia, retarded growth, genital and ear deformities (CHARGE) association Dystopia canthorum - Waardenburg syndrome (WS) Heterochromia irides - WS Keratitis - Cogan [emedicine.medscape.com]

When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome. [emedicine.medscape.com]

[…] examination findings Auricular deformity - Treacher-Collins syndrome, Goldenhar syndrome External canal atresia or stenosis - Treacher-Collins syndrome, Goldenhar syndrome [emedicine.medscape.com]

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Cataract - Ataxia - Deafness

When associated with bilateral abducens palsy and hearing loss, it is referred to as Wildervanck syndrome. [emedicine.medscape.com]

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Autosomal Dominant Non-Syndromic Mental Retardation

Genet. 5: 52-55, 1968. [12] Rogers BO:Microtic, lop, cup and external-ear abnormalities:four directly inheritable deformities. [sonoworld.com]

1A ) Audiological evaluation disclosed severe to profound congenital bilateral sensorineural hearing loss in all the affected members from these two families and in the simplex [journals.plos.org]

Patients with the common Down's syndrome (Trisomy 21), often have inner ear malformations. [dizziness-and-balance.com]

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Dermo-Odonto Dysplasia

ears. [findzebra.com]

[…] brittle nails, low set ears, saddle-shaped nose, small face, short stature and prominent frontal bossing. [scielo.br]

Symptoms INHERITANCE: Autosomal recessive HEAD AND NECK: [Ears]; Bilateral congenital profound sensorineural hearing loss; [Mouth]; Diastema; [Teeth]; Oligodontia Kindler [findzebra.com]

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