Genetic Syndromes Affecting Hearing System Quiz
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Questions and Answers

Which of the following is a characteristic feature of Paget disease (osteitis deformans)?

  • Facial paralysis and vesicles of the external ear
  • Enlarged vestibular aqueduct and Mondini malformation
  • Excessive osteolysis and disorganized bone remodeling (correct)
  • Cleft palate and ossicular abnormalities

    • Which genetic defect is associated with Pendred syndrome?

  • Type II collagen defect
  • Autosomal recessive phytanic acid oxidase deficiency
  • Autosomal recessive SLC26A4 gene defect (correct)
  • L1A1 and COL1A2 gene defect

    • What type of hearing loss is typically associated with Stickler syndrome?

  • Progressive sensorineural hearing loss (correct)
  • Conductive hearing loss
  • Transient hearing loss
  • Mixed or sensorineural hearing loss

    • Which of the following is a characteristic symptom of superior semicircular canal dehiscence syndrome (Minor's syndrome)?

    <p>Vertigo induced by loud sounds or exertion</p> Signup and view all the answers

    What type of hearing loss is typically associated with congenital atresia of the external auditory canal?

    <p>Conductive hearing loss</p> Signup and view all the answers

    Which of the following syndromes is characterized by hemifacial microsomia and variable presentations, including microtia/atresia?

    <p>Oculoauriculovertebral spectrum</p> Signup and view all the answers

    Which of the following conditions is characterized by conductive hearing loss due to ossicular fixation/fracture, particularly involving the stapes, and can progress to mixed hearing loss?

    <p>Osteogenesis Imperfecta (van der Hoeve–de Kleyn syndrome)</p> Signup and view all the answers

    Which of the following conditions is characterized by the complete congenital absence of the cochlea and vestibular system?

    <p>Michel aplasia</p> Signup and view all the answers

    What is the underlying genetic defect associated with Nager syndrome (acrofacial dysostosis), a condition similar to Treacher Collins syndrome but with radial limb defects?

    <p>Autosomal dominant; <em>SF3B4</em> gene defect</p> Signup and view all the answers

    Which of the following conditions is characterized by conductive hearing loss due to atresia (ear canal malformation)?

    <p>Oculoauriculovertebral spectrum</p> Signup and view all the answers

    Which syndrome is characterized by microtia and a small head?

    <p>Paget disease</p> Signup and view all the answers

    Which condition involves closure of the air-bone gap at 2000 Hz?

    <p>Conductive hearing loss</p> Signup and view all the answers

    What is the common cause of non-syndromic sensorineural hearing loss in congenital cases?

    <p>Goldenhar syndrome</p> Signup and view all the answers

    Which syndrome is characterized by throat and ear pain due to calcified stylohyoid ligament?

    <p>Paget disease</p> Signup and view all the answers

    Which condition is associated with fine nystagmus when gaze is directed opposite the lesion?

    <p>Goldenhar syndrome</p> Signup and view all the answers

    Which syndrome is characterized by malar hypoplasia, palpebral fissures, microtia, and conductive hearing loss?

    <p>Treacher Collins syndrome</p> Signup and view all the answers

    Which condition is associated with partial albinism, white forelock, heterochromatic irises, and congenital sensorineural hearing loss?

    <p>Wegener granulomatosis</p> Signup and view all the answers

    Which syndrome is linked to endolymphatic sac tumors, pheochromocytomas, and hemangioblastomas?

    <p>Von Hippel-Lindau syndrome</p> Signup and view all the answers

    Which condition is associated with vertigo episodes, motion intolerance, and persistent dizziness/disequilibrium?

    <p>Vestibular migraine</p> Signup and view all the answers

    Which syndrome manifests with autosomal dominant inheritance, microtia, and third window pathology leading to hypermobile footplate?

    <p>Atresia</p> Signup and view all the answers

    Which of the following is a characteristic feature of Goldenhar syndrome?

    <p>Mixed hearing loss</p> Signup and view all the answers

    Which of the following conditions is characterized by abnormal bone remodeling, leading to deformities and fractures?

    <p>Paget disease</p> Signup and view all the answers

    Which of the following conditions is characterized by the absence or closure of a normal body opening or passage?

    <p>Atresia</p> Signup and view all the answers

    Which of the following conditions is characterized by brittle bones and an increased risk of fractures?

    <p>Osteogenesis Imperfecta</p> Signup and view all the answers

    Which type of hearing loss is caused by a problem in the outer or middle ear, leading to a reduction in the transmission of sound waves?

    <p>Conductive hearing loss</p> Signup and view all the answers

    Which of the following conditions is characterized by conductive hearing loss due to stapes fixation, midface hypoplasia, and characteristic facial features?

    <p>Apert syndrome</p> Signup and view all the answers

    Which of the following conditions is associated with progressive deafness, vision changes, chronic otitis media, cardiomyopathy, diabetes mellitus type 2, obesity, renal dysfunction, and short stature?

    <p>Alström syndrome</p> Signup and view all the answers

    Which of the following conditions is characterized by conductive hearing loss due to atresia of the external auditory canal?

    <p>Congenital atresia of the external auditory canal</p> Signup and view all the answers

    Which of the following conditions is characterized by progressive deafness, bone deformities, and increased susceptibility to fractures?

    <p>Osteogenesis Imperfecta</p> Signup and view all the answers

    Which of the following conditions is characterized by progressive conductive and sensorineural hearing loss, as well as bone deformities and enlargement of the skull?

    <p>Paget disease</p> Signup and view all the answers

    Which of the following is a characteristic feature of Goldenhar syndrome?

    <p>Hemifacial microsomia, epibulbar dermoids, and vertebral anomalies</p> Signup and view all the answers

    Which gene mutation is associated with Paget disease (osteitis deformans)?

    <p>SQSTM1</p> Signup and view all the answers

    Which type of hearing loss is typically associated with congenital atresia of the external auditory canal?

    <p>Conductive hearing loss</p> Signup and view all the answers

    Which of the following is a characteristic feature of osteogenesis imperfecta?

    <p>Brittle bones with a high risk of fractures</p> Signup and view all the answers

    Which condition is associated with recurrent facial paralysis and tongue swelling?

    <p>Melkersson-Rosenthal syndrome</p> Signup and view all the answers

    Which type of hearing loss is typically associated with otosclerosis?

    <p>Conductive hearing loss</p> Signup and view all the answers

    Which condition is characterized by hemifacial microsomia and vertebral anomalies?

    <p>Goldenhar syndrome</p> Signup and view all the answers

    Which of the following is a characteristic feature of Paget disease?

    <p>Abnormal bone remodeling leading to bone deformities</p> Signup and view all the answers

    Which type of hearing loss is typically associated with cholesteatoma?

    <p>Mixed hearing loss</p> Signup and view all the answers

    Which condition is characterized by a sensation of continued movement while at rest?

    <p>Mal de débarquement syndrome</p> Signup and view all the answers

    What is the characteristic feature of Kearns-Sayre syndrome (KSS) that involves the auditory system?

    <p>Sensorineural hearing loss (SNHL)</p> Signup and view all the answers

    Which gene mutation is associated with Pendred syndrome, a condition characterized by congenital SNHL and goiter?

    <p>SLC26A4 gene</p> Signup and view all the answers

    What type of hearing loss is typically associated with congenital atresia of the external auditory canal?

    <p>Conductive hearing loss</p> Signup and view all the answers

    Which syndrome is characterized by hemifacial microsomia and variable presentations, including microtia/atresia?

    <p>Goldenhar syndrome</p> Signup and view all the answers

    What is the underlying genetic defect associated with Nager syndrome (acrofacial dysostosis), a condition similar to Treacher Collins syndrome but with radial limb defects?

    <p>SF3B4 gene</p> Signup and view all the answers

    What are the characteristic features of Neurofibromatosis type 1?

    <p>Multifocal neurofibromas, malignant nerve sheath tumors, café au lait spots, and axillary freckling. It is an autosomal dominant condition caused by a defect in the NF1 gene.</p> Signup and view all the answers

    Describe the key features of Mondini malformation/incomplete partition.

    <p>Mondini malformation is a congenital defect characterized by incomplete cochlear development, resulting in an abnormal cochlear structure with a reduced number of turns.</p> Signup and view all the answers

    What are the characteristic cranial nerve palsies associated with Möbius sequence?

    <p>Möbius sequence is characterized by VI (abducens) and VII (facial) cranial nerve palsies, as well as possible deficits in other cranial nerves. It is also associated with micrognathia and cleft palate.</p> Signup and view all the answers

    Describe the key features of Osteogenesis Imperfecta (van der Hoeve–de Kleyn syndrome).

    <p>Osteogenesis Imperfecta is characterized by conductive hearing loss due to ossicular fixation or fracture, particularly involving the stapes, which can progress to mixed hearing loss. It is an autosomal dominant condition.</p> Signup and view all the answers

    What is the characteristic feature of Nager syndrome (acrofacial dysostosis)?

    <p>Nager syndrome is similar to Treacher Collins syndrome, but with the additional feature of radial limb defects. It is an autosomal dominant condition caused by a defect in the SF3B4 gene.</p> Signup and view all the answers

    What is the genetic defect associated with neurofibromatosis type 2, which can lead to vestibular schwannomas and hearing loss?

    <p>NF2 gene mutation</p> Signup and view all the answers

    In cases of severe micrognathia, what is the primary concern regarding the airway?

    <p>Potential for airway obstruction</p> Signup and view all the answers

    What is the underlying pathology in osteogenesis imperfecta that leads to recurrent fractures and conductive hearing loss?

    <p>Defective collagen synthesis</p> Signup and view all the answers

    In cases of cochlear aplasia/hypoplasia, what type of hearing loss is typically observed?

    <p>Profound sensorineural hearing loss</p> Signup and view all the answers

    What is the potential complication of a lower cranial nerve (IX-XII) palsy in a newborn?

    <p>Feeding and swallowing difficulties</p> Signup and view all the answers

    What rare inflammatory disorder presents with a snowball pattern of demyelination in the corpus callosum, branch retinal artery occlusions, and progressive sensorineural hearing loss?

    <p>Susac syndrome</p> Signup and view all the answers

    Which syndrome is characterized by throat and ear pain due to a calcified stylohyoid ligament?

    <p>Eagle syndrome</p> Signup and view all the answers

    What genetic defect is associated with Ramsay-Hunt Syndrome, which manifests with facial paralysis, vesicles of the external ear/canal, and varicella zoster reactivation?

    <p>Herpes zoster virus</p> Signup and view all the answers

    What genetic defect is associated with Pendred syndrome, which presents with euthyroid goiter, an enlarged vestibular aqueduct, and Mondini malformation of the cochlea?

    <p>SLC26A4 gene defect</p> Signup and view all the answers

    Which condition involves a transient elevation of cerebrospinal fluid (CSF) pressure due to lateral sinus thrombosis, as seen in the Toby-Ayer-Queckenstedt test?

    <p>Cranial venous sinus thrombosis</p> Signup and view all the answers

    What syndrome is characterized by malar hypoplasia, palpebral fissures, microtia, and conductive hearing loss?

    <p>Treacher Collins syndrome</p> Signup and view all the answers

    Which syndrome involves progressive vision, vestibular, and sensorineural hearing loss, with three subtypes and various genetic defects?

    <p>Usher syndrome</p> Signup and view all the answers

    What autoimmune disorder targets melanocytes and presents with vertigo, ataxia, SNHL, vision loss, and skin pigment changes?

    <p>Vogt-Koyanagi-Harada syndrome</p> Signup and view all the answers

    In the context of neurofibromatosis type 2 (NF2), describe the characteristic cranial nerve palsy and its associated tumor.

    <p>Vestibular schwannoma (acoustic neuroma) arising from the vestibulocochlear nerve (CN VIII), leading to unilateral sensorineural hearing loss and vestibular dysfunction.</p> Signup and view all the answers

    Which syndrome is associated with partial albinism, white forelock, heterochromatic irises, and congenital sensorineural hearing loss?

    <p>Waardenburg syndrome</p> Signup and view all the answers

    What is the underlying genetic defect in osteogenesis imperfecta, and how does it manifest clinically?

    <p>Mutations in genes encoding type I collagen (COL1A1 and COL1A2), leading to brittle bones with increased susceptibility to fractures.</p> Signup and view all the answers

    What syndrome is linked to endolymphatic sac tumors, pheochromocytomas, and hemangioblastomas, and is caused by a defect in the VHL gene?

    <p>von Hippel-Lindau syndrome</p> Signup and view all the answers

    Describe the characteristic cochlear abnormality and associated hearing loss pattern in Mondini dysplasia.

    <p>Incomplete partitioning of the cochlea, leading to a characteristic mixed hearing loss with a better preserved low-frequency hearing.</p> Signup and view all the answers

    In the context of micrognathia (small jaw), what is the potential impact on the upper airway and associated complications?

    <p>Micrognathia can lead to airway obstruction, obstructive sleep apnea, and feeding difficulties due to the restricted oropharyngeal space.</p> Signup and view all the answers

    Describe the characteristic cranial nerve palsy and its potential causes in Collet-Sicard syndrome.

    <p>Involvement of cranial nerves IX (glossopharyngeal), X (vagus), XI (accessory), and XII (hypoglossal), often due to compression at the jugular foramen or hypoglossal canal.</p> Signup and view all the answers

    In neurofibromatosis type 2 (NF2), what cranial nerves are commonly affected by bilateral vestibular schwannomas, leading to hearing loss and balance problems?

    <p>The eighth cranial nerves (vestibulocochlear nerves) are commonly affected by bilateral vestibular schwannomas in NF2, leading to sensorineural hearing loss and vestibular dysfunction.</p> Signup and view all the answers

    What is the underlying genetic defect in osteogenesis imperfecta, and how does it lead to the characteristic features of the condition?

    <p>Osteogenesis imperfecta is caused by mutations in genes that encode type I collagen, leading to defective collagen production and abnormal bone formation, resulting in brittle bones and increased fracture risk.</p> Signup and view all the answers

    In cases of severe micrognathia (small jaw), what potential complications can arise related to the auditory system?

    <p>In severe cases of micrognathia, the position of the mandible can impinge on the external auditory canal, leading to conductive hearing loss or even atresia (complete closure) of the ear canal.</p> Signup and view all the answers

    What is the primary feature of Mondini dysplasia, a cochlear malformation, and how does it affect hearing?

    <p>The primary feature of Mondini dysplasia is an incomplete or arrested development of the cochlea, resulting in a shortened and abnormally shaped cochlea. This can lead to varying degrees of sensorineural hearing loss.</p> Signup and view all the answers

    In cases of facial nerve (seventh cranial nerve) palsy, what potential auditory complications can arise, and what is the underlying mechanism?

    <p>In cases of facial nerve palsy, a potential complication is conductive hearing loss due to paralysis of the stapedius muscle, which is innervated by the facial nerve. This can lead to increased stiffness of the stapedial reflex and impaired sound transmission.</p> Signup and view all the answers

    What is the characteristic feature of large vestibular aqueduct syndrome (LVAS), and how does it contribute to hearing loss?

    <p>The characteristic feature of LVAS is an abnormally enlarged vestibular aqueduct, which is a bony channel connecting the membranous labyrinth to the cranial cavity. This enlargement can lead to a fluctuating or progressive sensorineural hearing loss.</p> Signup and view all the answers

    In cases of Goldenhar syndrome (oculo-auriculo-vertebral spectrum), what potential auditory manifestations can occur, and what is the underlying mechanism?

    <p>In Goldenhar syndrome, potential auditory manifestations include conductive hearing loss due to external auditory canal atresia or middle ear malformations, as well as sensorineural hearing loss due to inner ear abnormalities. These arise from developmental defects in the first and second branchial arches.</p> Signup and view all the answers

    What is the primary mechanism underlying the progressive sensorineural hearing loss observed in individuals with neurofibromatosis type 2 (NF2)?

    <p>The primary mechanism underlying progressive sensorineural hearing loss in NF2 is the compression and eventual destruction of the eighth cranial nerve (vestibulocochlear nerve) by the growth of bilateral vestibular schwannomas.</p> Signup and view all the answers

    In cases of Treacher Collins syndrome, what potential auditory manifestations can occur, and what is the underlying mechanism?

    <p>In Treacher Collins syndrome, potential auditory manifestations include conductive hearing loss due to external auditory canal atresia or middle ear malformations, as well as sensorineural hearing loss due to inner ear abnormalities. These arise from developmental defects in the first and second branchial arches.</p> Signup and view all the answers

    What is the primary mechanism underlying the conductive hearing loss observed in cases of facial nerve (seventh cranial nerve) palsy?

    <p>The primary mechanism underlying conductive hearing loss in cases of facial nerve palsy is paralysis of the stapedius muscle, which is innervated by the facial nerve. This can lead to increased stiffness of the stapedial reflex and impaired sound transmission through the ossicular chain.</p> Signup and view all the answers

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