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Selected Disorders




Otosclerosis is an autosomal dominant inherited disorder. It is a relatively common progressive disease of the middle ear. It may first become apparent with conductive hearing loss due to stapes (stirrup bone) fixation, but may progress to include sensorineural hearing loss. Hearing can usually be restored by surgery.


Treacher-Collins syndrome


Treacher-Collins is an autosomal dominant disorder. There is a characteristic appearance in this syndrome, and usually one parent will closely resemble the child. Abnormalities of the ear may include a small external ear, ear tag or narrowing and/or complete absence of the external ear canal. Other findings may include malformed middle ear bones. Conductive hearing loss is the most common hearing problem.


Goldenhar syndrome


Physical findings in this case may be one sided and may include the jawbone, ear, palate and the voice box. Hearing loss is usually conductive in nature. 


Waardenburg syndrome


This syndrome is an autosomal dominant disorder with some facial findings as well as hair hypopigmentation (white forelock or early graying of the hair). Hearing loss in Waardenburg syndrome may range from mild to profound and may be one sided or affects both ears. It is usually sensorineural in character.


Branchio-Oto-Renal syndrome


This syndrome is an autosomal dominant syndrome with association between ear deformity (40%), hearing impairment and renal dysplasia. Mixed hearing loss (nerve and conductive) is most common.


Usher syndrome


Usher syndrome is autosomal recessive. This disorder usually is characterized by fairly profound congenital deafness and may or may not have abnormal balance function. These patients may eventually also suffer severe visual impairment and suffer from rhinitis pigmentosa.


Pendred syndrome


Pendred syndrome an autosomal recessive disorder characterized by thyroid enlargement and sensorineural type hearing loss. In more than half the patients, hearing loss is severe to profound, progressive and involves both ears.


Jervell and Lang-Nielsen syndrome


In this syndrome which is also autosomal recessive, there may be a history of syncopal episodes in a congenitally deaf child. Associated abnormalities on an EKG would be diagnostic.


Alport syndrome


Alport syndrome is a x-link disorder that usually involves congenital sensorineural hearing impairment and nephritis. Because it is x-linked, mothers are usually carriers without the disease, and the syndrome is more severe in males. 

The diagnoses of these hereditary hearing loss syndromes as well as non-hereditary hearing loss involves careful history taking and physical examination as well as testing. Your physician will suggest selected laboratory and x-ray studies based on the physical examination and history involving your particular child. Only some of the laboratory or x-ray studies listed above will be done on your child as not all of these tests may be appropriate in your situation. Therefore, selection of these particular studies is best decided on an individual basis.




What is hoarseness?


Hoarseness is the name for the breathy, coarse, or harsh sounding speech produced from a variety of causes. It is important to find the cause of a hoarse voice, so the appropriate treatment plan can be developed.


What are some of the causes of a hoarse voice?


Any illness or process that directly or indirectly affects the VOCAL CORDS in the LARYNX (voice box), that does not allow the vocal cords to close completely, will result in a hoarse voice. The vocal cords can be affected directly by colds and croup or may be affected indirectly by non-infectious processes, environmental or traumatic causes, and congenital and genetic syndromes.

Hoarseness also may be caused by any process that affects the nerve that moves the vocal cords (the recurrent laryngeal nerve). This results in VOCAL CORD PARALYSIS.


What are some of the more common infectious causes of hoarseness?


Viral and bacterial infections can directly affect the throat and vocal cords, resulting in hoarseness. These illnesses are known as laryngitis, or laryngotracheitis (croup).

These do not usually last more than a week or so, and can usually be identified and treated by your primary care physician. However, it is important to realize that hoarseness can continue for a month or so after the primary infection. Sinusitis or any infection involving a runny/stuffy nose resulting in drainage of the secretions into the throat (post-nasal drip) may also affect the vocal cords, resulting in hoarseness.


Which non-infectious processes can result in hoarseness?


Allergies are common non-infectious processes that can result in hoarseness. The secretions produced in common allergies can drip into the throat (post-nasal drip) irritating the throat and vocal cords. Allergies can also cause swelling of the vocal cords resulting in hoarseness. Successful treatment of the allergies will result in resolution of the hoarse voice.

Excessive use or misuse of the voice leading to formation of VOCAL CORD NODULES is another relatively common cause of hoarseness.


Gastroesophageal reflux disease (GORD)


Reflux of stomach acid into the back of the throat will also cause hoarseness and may be more common than previously thought. Because reflux can be silent in many children, examination of the vocal cords and testing for reflux may be necessary to establish this cause of hoarseness.

Other non-infectious processes are much unusual causes of hoarseness. These can include vocal cord polyps, endocrine (glandular problems) and tumors of the larynx among others.

What are some of the more common traumatic causes of hoarseness?


Traumatic causes of hoarseness refer to damage of the neck or vocal cords through trauma. Some examples include caustic ingestions (acid, poisons), intubation (breathing tube placement), feeding tube placement, birth trauma, or other trauma (car or bike accidents).


What are some of the congenital and genetic causes of hoarseness?


An infant may be born with a deformity of the larynx (voice box), or a nerve problem causing hoarseness. In many cases, there may be STRIDOR or noisy breathing as well. These causes of hoarseness can include vocal cord paralysis, laryngomalacia, cysts, webs (a membrane blocking the opening) or clefts in the voice box. Some genetic (inherited) syndromes also involve deformities causing hoarseness.


What are some of the indirect causes of hoarseness?


Anything that could damage the nerve (recurrent laryngeal nerve) that moves the vocal cords may result in hoarseness. This may include many rare diseases involving the brain or nerves in the body. Occasionally a child is born with damage to this nerve. Surgery in the chest and around the heart and large blood vessels may also result in damage to the nerve.


When should hoarseness be a concern?


In otherwise healthy children, hoarseness that has been present for four months or longer should be evaluated. In newborn children, children with a history of chest surgery or those with other congenital problems, hoarseness should be evaluated more promptly. If your child has had a hoarse voice since they began speaking and it has not improved, it should be evaluated.


What does an evaluation consist of?


Not every child is similar, so each patient is evaluated according to their particular history. A thorough history and physical exam is performed. Your doctor may also order a hearing test to rule out hearing loss that sometimes accompanies hoarseness. Finally, an evaluation of the voice box with a special camera is performed. This is called a flexible laryngoscopy. Most often, it can be performed in the office under local (topical) anesthesia placed in the nose.

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