Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities
Identifieur interne : 002E24 ( Istex/Corpus ); précédent : 002E23; suivant : 002E25Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities
Auteurs : Carol A. Foster ; Paula J. DyhrkoppSource :
- Otolaryngology - Head and Neck Surgery [ 0194-5998 ] ; 1998.
Url:
DOI: 10.1016/S0194-5998(98)70111-1
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities</title><author><name sortKey="Foster, Carol A" sort="Foster, Carol A" uniqKey="Foster C" first="Carol A." last="Foster">Carol A. Foster</name><affiliation><mods:affiliation>Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Dyhrkopp, Paula J" sort="Dyhrkopp, Paula J" uniqKey="Dyhrkopp P" first="Paula J." last="Dyhrkopp">Paula J. Dyhrkopp</name><affiliation><mods:affiliation>Denver, Colorado</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:6312DE01614336EC3E4023533CD1D3985C8C20EC</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1016/S0194-5998(98)70111-1</idno><idno type="url">https://api.istex.fr/document/6312DE01614336EC3E4023533CD1D3985C8C20EC/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002E24</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002E24</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities</title><author><name sortKey="Foster, Carol A" sort="Foster, Carol A" uniqKey="Foster C" first="Carol A." last="Foster">Carol A. Foster</name><affiliation><mods:affiliation>Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Dyhrkopp, Paula J" sort="Dyhrkopp, Paula J" uniqKey="Dyhrkopp P" first="Paula J." last="Dyhrkopp">Paula J. Dyhrkopp</name><affiliation><mods:affiliation>Denver, Colorado</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Otolaryngology - Head and Neck Surgery</title><title level="j" type="abbrev">YMHN</title><idno type="ISSN">0194-5998</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1998">1998</date><biblScope unit="volume">119</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="508">508</biblScope><biblScope unit="page" to="511">511</biblScope></imprint><idno type="ISSN">0194-5998</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0194-5998</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader></TEI><istex><corpusName>elsevier</corpusName><keywords><teeft><json:string>nystagmus</json:string><json:string>sensorineural</json:string><json:string>abnormality</json:string><json:string>vestibular</json:string><json:string>noonan</json:string><json:string>noonan syndrome</json:string><json:string>syndrome</json:string><json:string>sensorineural hearing loss</json:string><json:string>auditory</json:string><json:string>hearing loss</json:string><json:string>dyhrkopp</json:string><json:string>otolaryngology</json:string><json:string>leopard</json:string><json:string>genet</json:string><json:string>conductive</json:string><json:string>sharland</json:string><json:string>leopard syndrome</json:string><json:string>bilaterally</json:string><json:string>absent eyebrows</json:string><json:string>curly hair</json:string><json:string>vestibular function</json:string><json:string>watson syndrome</json:string><json:string>vertigo</json:string><json:string>physical findings</json:string><json:string>neck surgery volume</json:string><json:string>neurofibromatosis type</json:string><json:string>vestibular testing</json:string><json:string>positional nystagmus</json:string><json:string>other syndromes</json:string><json:string>endolymphatic hydrops</json:string><json:string>conductive losses</json:string><json:string>conductive hearing loss</json:string><json:string>sensorineural losses</json:string><json:string>structural lesions</json:string><json:string>colorado health sciences center</json:string><json:string>otolaryngologic examination</json:string><json:string>progressive sensorineural hearing loss</json:string></teeft></keywords><author><json:item><name>CAROL A. FOSTER MD</name><affiliations><json:string>Denver, Colorado</json:string></affiliations></json:item><json:item><name>PAULA J. DYHRKOPP MS</name><affiliations><json:string>Denver, Colorado</json:string></affiliations></json:item></author><language><json:string>eng</json:string></language><originalGenre><json:string>Full-length article</json:string></originalGenre><qualityIndicators><score>1.772</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>0</keywordCount><abstractCharCount>0</abstractCharCount><pdfWordCount>1760</pdfWordCount><pdfCharCount>11935</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>1</abstractWordCount></qualityIndicators><title>Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities</title><pii><json:string>S0194-5998(98)70111-1</json:string></pii><genre><json:string>research-article</json:string></genre><host><title>Otolaryngology - Head and Neck Surgery</title><language><json:string>unknown</json:string></language><publicationDate>1998</publicationDate><issn><json:string>0194-5998</json:string></issn><pii><json:string>S0194-5998(05)X7091-7</json:string></pii><volume>119</volume><issue>5</issue><pages><first>508</first><last>511</last></pages><genre><json:string>journal</json:string></genre></host><categories><wos><json:string>science</json:string><json:string>surgery</json:string><json:string>otorhinolaryngology</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>clinical medicine</json:string><json:string>otorhinolaryngology</json:string></scienceMetrix></categories><publicationDate>1998</publicationDate><copyrightDate>1998</copyrightDate><doi><json:string>10.1016/S0194-5998(98)70111-1</json:string></doi><id>6312DE01614336EC3E4023533CD1D3985C8C20EC</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/6312DE01614336EC3E4023533CD1D3985C8C20EC/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/6312DE01614336EC3E4023533CD1D3985C8C20EC/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/6312DE01614336EC3E4023533CD1D3985C8C20EC/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>ELSEVIER</publisher><availability><p>©1998 American Academy of Otolaryngology–Head and Neck Surgery Foundation, Inc</p></availability><date>1998</date></publicationStmt><notesStmt><note>From the Departments of Otolaryngology–Head and Neck Surgery (Dr. Foster) and Audiology (Ms. Dyhrkopp), University of Colorado Health Sciences Center.</note><note>Reprint requests: Carol A. Foster, MD, Department of Otolaryngology, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Campus Box B205, Denver, CO 80262.</note><note>Otolaryngol Head Neck Surg 1998;119:508-11.</note><note>0194-5998/98/$5.00 + 0 23/4/79737</note><note type="content">Table 1: Comparison of physical findings in NS with other multiple congenital anomaly syndromes</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities</title><author xml:id="author-0000"><persName><forename type="first">CAROL A.</forename><surname>FOSTER</surname></persName><roleName type="degree">MD</roleName><affiliation>Denver, Colorado</affiliation></author><author xml:id="author-0001"><persName><forename type="first">PAULA J.</forename><surname>DYHRKOPP</surname></persName><roleName type="degree">MS</roleName><affiliation>Denver, Colorado</affiliation></author><idno type="istex">6312DE01614336EC3E4023533CD1D3985C8C20EC</idno><idno type="DOI">10.1016/S0194-5998(98)70111-1</idno><idno type="PII">S0194-5998(98)70111-1</idno></analytic><monogr><title level="j">Otolaryngology - Head and Neck Surgery</title><title level="j" type="abbrev">YMHN</title><idno type="pISSN">0194-5998</idno><idno type="PII">S0194-5998(05)X7091-7</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1998"></date><biblScope unit="volume">119</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="508">508</biblScope><biblScope unit="page" to="511">511</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1998</date></creation><langUsage><language ident="en">en</language></langUsage></profileDesc><revisionDesc><change when="1998">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/6312DE01614336EC3E4023533CD1D3985C8C20EC/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Elsevier doc found" wicri:toSee="Elsevier, no converted or simple article"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//ES//DTD journal article DTD version 5.0.1//EN//XML" URI="art501.dtd" name="istex:docType"><istex:entity SYSTEM="gr1" NDATA="IMAGE" name="gr1"></istex:entity><istex:entity SYSTEM="gr2" NDATA="IMAGE" name="gr2"></istex:entity></istex:docType><istex:document><article docsubtype="fla" xml:lang="en"><item-info><jid>YMHN</jid><aid>79737</aid><ce:pii>S0194-5998(98)70111-1</ce:pii><ce:doi>10.1016/S0194-5998(98)70111-1</ce:doi><ce:copyright type="other" year="1998">American Academy of Otolaryngology–Head and Neck Surgery Foundation, Inc</ce:copyright></item-info><ce:floats><ce:table id="tab1" colsep="0" rowsep="0" frame="topbot"><ce:label>Table 1</ce:label><ce:caption><ce:simple-para>Comparison of physical findings in NS with other multiple congenital anomaly syndromes</ce:simple-para></ce:caption><tgroup cols="7"><colspec colname="col1" colsep="0"></colspec><colspec colname="col2" colsep="0"></colspec><colspec colname="col3" colsep="0"></colspec><colspec colname="col4" colsep="0"></colspec><colspec colname="col5" colsep="0"></colspec><colspec colname="col6" colsep="0"></colspec><colspec colname="col7" colsep="0"></colspec><thead><row><entry></entry><entry>NS (% affected)</entry><entry align="center">CFC</entry><entry align="center">Baraitser-Patton</entry><entry align="center">Leopard</entry><entry align="center">Watson</entry><entry align="center">Present case</entry></row></thead><tbody><row><entry namest="col1" nameend="col6">Findings</entry><entry colname="col7" align="center"></entry></row><row><entry>Cardiac</entry><entry>Pulmonary stenosis (62)</entry><entry align="center">+++</entry><entry align="center">+++</entry><entry align="center">+++</entry><entry align="center">+++</entry><entry align="center"></entry></row><row><entry></entry><entry>Obstructive cardiomyopathy (20)</entry><entry align="center"></entry><entry align="center">+</entry><entry align="center"></entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry>Chest wall</entry><entry>Pectus excavatum ± carination (95)</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry>Genitalia</entry><entry>Cryptorchidism (77)</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center">+++</entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry>Central</entry><entry>Retardation (43)</entry><entry align="center">+++</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center">+++</entry><entry align="center">+</entry></row><row><entry>nervous system</entry><entry>Epilepsy (13)</entry><entry align="center">+</entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry>Facies</entry><entry>Hypertelorism (74)</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center">+++</entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry></entry><entry>Short/web neck (48)</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry>Ears</entry><entry>Low-set/rotated, thickened helix (90)</entry><entry align="center">+++</entry><entry align="center">+</entry><entry align="center">+++</entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry></entry><entry>Sensorineural hearing loss (4)</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center">+++</entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry></entry><entry>Congenital hearing loss (36)</entry><entry align="center"></entry><entry align="center">+</entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry></row><row><entry>Eyes</entry><entry>Nystagmus (9)</entry><entry align="center">+</entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry></entry><entry>Strabismus (48)</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center"></entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry>Hair</entry><entry>Curly (29)</entry><entry align="center">+</entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry><entry align="center">+</entry></row><row><entry></entry><entry>Sparse (11)</entry><entry align="center">+++</entry><entry align="center">+++</entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry></row><row><entry></entry><entry>Absent eyebrows (14)</entry><entry align="center">+++</entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry></row><row><entry>Skin</entry><entry>Ulerythema ophryogenes (14)</entry><entry align="center">+</entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry></row><row><entry></entry><entry>Hyperkeratoses (unknown)</entry><entry align="center">+++</entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry></row><row><entry></entry><entry>Café au lait (10)</entry><entry align="center"></entry><entry align="center"></entry><entry align="center"></entry><entry align="center">+++</entry><entry align="center"></entry></row><row><entry></entry><entry>Lentigines (3)</entry><entry align="center"></entry><entry align="center"></entry><entry align="center">+++</entry><entry align="center"></entry><entry align="center"></entry></row><row><entry>Family history</entry><entry>Positive (44)</entry><entry align="center"></entry><entry align="center"></entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center"></entry></row><row><entry>Height</entry><entry>Short (80)</entry><entry align="center">+</entry><entry align="center">+</entry><entry align="center">+++</entry><entry align="center">+++</entry><entry align="center">+</entry></row><row><entry namest="col1" nameend="col7">+++ = Major diagnostic criteria for each syndrome; + = other reported findings in each syndrome.</entry></row></tbody></tgroup></ce:table></ce:floats><head><ce:article-footnote><ce:label>☆</ce:label><ce:note-para>From the Departments of Otolaryngology–Head and Neck Surgery (Dr. Foster) and Audiology (Ms. Dyhrkopp), University of Colorado Health Sciences Center.</ce:note-para></ce:article-footnote><ce:article-footnote><ce:label>☆☆</ce:label><ce:note-para>Reprint requests: Carol A. Foster, MD, Department of Otolaryngology, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Campus Box B205, Denver, CO 80262.</ce:note-para></ce:article-footnote><ce:article-footnote><ce:label>★</ce:label><ce:note-para>Otolaryngol Head Neck Surg 1998;119:508-11.</ce:note-para></ce:article-footnote><ce:article-footnote><ce:label>★★</ce:label><ce:note-para>0194-5998/98/$5.00 + 0 <ce:bold>23/4/79737</ce:bold></ce:note-para></ce:article-footnote><ce:title>Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities</ce:title><ce:author-group><ce:author><ce:given-name>CAROL A.</ce:given-name><ce:surname>FOSTER</ce:surname><ce:degrees>MD</ce:degrees></ce:author><ce:author><ce:given-name>PAULA J.</ce:given-name><ce:surname>DYHRKOPP</ce:surname><ce:degrees>MS</ce:degrees></ce:author><ce:affiliation><ce:textfn>Denver, Colorado</ce:textfn></ce:affiliation></ce:author-group></head><body><ce:sections><ce:para>Noonan’s syndrome (NS) is a common association of multiple congenital anomalies involving the face, ears, and heart,<ce:cross-ref refid="bib1"><ce:sup>1</ce:sup></ce:cross-ref> with an estimated incidence of 1:1000 to 2500 live births. It is usually transmitted as autosomal dominant, with a recent linkage to chromosome 12.<ce:cross-ref refid="bib2"><ce:sup>2</ce:sup></ce:cross-ref> Penetrance is highly variable, with some family members showing only a few stigmata of the condition.</ce:para><ce:para>Patients were previously described as having Turner phenotype with a normal karyotype. Features that can be recognized on otolaryngologic examination are illustrated in Fig. 1.
<ce:display><ce:figure><ce:label>Fig. 1</ce:label><ce:caption><ce:simple-para>Head and neck findings in NS. Deformities of shape and placement of auricle occur in 90% of patients.</ce:simple-para></ce:caption> <ce:link locator="gr1"></ce:link></ce:figure></ce:display>Diagnosis can be complicated by changes in facial phenotype with aging, but auricular abnormalities are persistent. The ears are usually low-set and posteriorly rotated with a thickened helix and are often protuberant. Hearing loss is common.<ce:cross-ref refid="bib3"><ce:sup>3</ce:sup></ce:cross-ref> Only one audiogram has been published, and no reports including extensive audiologic testing have appeared. Nystagmus has been reported,<ce:cross-ref refid="bib4"><ce:sup>4</ce:sup></ce:cross-ref> although no studies have documented vestibular function. Additional diagnostic physical findings and comparison with other syndromes are given in Table 1.
<ce:float-anchor refid="tab1"></ce:float-anchor></ce:para><ce:para>We present a case of NS diagnosed in adulthood with progressive bilateral loss of hearing and vestibular function, associated with gaze-evoked nystagmus and other central abnormalities. These findings were documented on audiologic and vestibular testing.</ce:para><ce:section><ce:section-title>CASE REPORT</ce:section-title><ce:para>A 34-year-old man was referred to the Dizziness Clinic for evaluation of recurrent vertigo. In early childhood he was noted to have dysmorphic features, a heart murmur, and psychomotor retardation. During young adulthood, he was diagnosed with epilepsy, spontaneous rupture of the spleen, hypertrophic obstructive cardiomyopathy, thrombophlebitis/cellulitis of the legs, bilateral hernias, and hypothyroidism.</ce:para><ce:para>In childhood his hearing was normal, but he had frequent ear infections with bilateral serous otitis at age 13 years. Sensorineural hearing loss began at age 27 years; during several months, he lost all hearing in the right ear and began having vertigo. Exploration of the right ear for a fistula was negative, although both windows were patched. An electronystagmogram revealed a left canal paresis. He then had fluctuating hearing in the left ear. During 5 years, his vertigo worsened in frequency and duration, lasting up to 45 minutes on a near-daily basis. Temporal bone CT scans demonstrated no abnormalities, and results of screening blood studies were normal. At age 32 years the left ear was negative for a fistula and both windows were patched. He did not respond to steroids.</ce:para><ce:para>On initial examination, the patient was a short man with mild retardation. His neck was short and webbed. Curly hair of normal distribution and thickness and a high-arched palate were noted; there were no unusual skin lesions. The ears were low-set and posteriorly rotated with a thickened helix. Ocular examination revealed a left esotropia and a prominent gaze-evoked nystagmus. Left-beating nystagmus occurred with eyes open and fixating in the supine/head-left position. Dix-Hallpike examination was negative. Doll’s eye testing demonstrated impaired vestibulo-ocular reflexes with prominent catch-up saccades to horizontal head turns bilaterally. The remainder of the neurologic examination revealed only mild impairment to tandem gaiting.</ce:para><ce:para>Audiograms demonstrating progressive sensorineural hearing loss are shown in Fig. 2.
<ce:display><ce:figure id="fig2"><ce:label>Fig. 2</ce:label><ce:caption><ce:simple-para>Audiologic and vestibular findings in NS. Gaze-evoked nystagmus, progressive bilateral vestibular and sensorineural hearing loss, and abnormal auditory brainstem–evoked response and electrocochleography were found in absence of structural lesions. (<ce:italic>Discrim, Discrimination; SP</ce:italic> , summating potential; <ce:italic>AP</ce:italic> , action potential; <ce:italic>NR</ce:italic> , no response; <ce:italic>ENG</ce:italic> , electronystagmographic.)</ce:simple-para></ce:caption> <ce:link locator="gr2"></ce:link></ce:figure></ce:display>Electronystagmograms revealed gaze-evoked nystagmus, left-beating spontaneous and positional nystagmus, saccadic overshoots, and absent calorics. Electrocochleography and auditory brainstem– evoked response were abnormal bilaterally; results of these tests are given in <ce:cross-ref refid="fig2">Fig. 2</ce:cross-ref>. Otoacoustic emissions were absent bilaterally. Klippel-Feil anomaly, Chiari malformation, enlarged endolymphatic sacs, and acoustic tumors were ruled out with MRI and neck radiographs. High-resolution chromosomal analysis was normal.</ce:para><ce:para>A diagnosis of NS was made. He was believed to have bilateral auditory and vestibular deficits as a result of probable endolymphatic hydrops with additional central vestibular abnormalities. Thiazide diuretics were contraindicated because of his cardiac defect. He was given acetazolamide and a sodium-restricted diet. The vertigo spells remitted entirely, but he continued to have fluctuating hearing and gaze-evoked nystagmus. Acetazolamide was discontinued and he is now maintained on a low-sodium diet without recurrence of vertigo. He has benefitted from the use of hearing amplification.</ce:para></ce:section><ce:section><ce:section-title>DISCUSSION</ce:section-title><ce:para>There is significant overlap of NS with other syndromes involving the heart, ears, face, and skin. Our patient had NS but also had features considered characteristic of overlapping cardiocutaneous disorders, while failing to meet full criteria for any of them. This suggests that several of these syndromes may be variants of NS rather than distinct genetic disorders. Watson syndrome,<ce:cross-ref refid="bib5"><ce:sup>5</ce:sup></ce:cross-ref> LEOPARD syndrome,<ce:cross-ref refid="bib6"><ce:sup>6</ce:sup></ce:cross-ref> cardiofaciocutaneous syndrome (CFC),<ce:cross-ref refid="bib7"><ce:sup>7</ce:sup></ce:cross-ref> and Baraitser-Patton syndrome<ce:cross-ref refid="bib8"><ce:sup>8</ce:sup></ce:cross-ref> share some features of NS (<ce:cross-ref refid="tab1">Table 1</ce:cross-ref>). Watson syndrome has been linked to abnormalities of neurofibromatosis type 1 gene, the same gene involved in neurofibromatosis,<ce:cross-ref refid="bib5"><ce:sup>5</ce:sup></ce:cross-ref> whereas this linkage has been rejected for NS.<ce:cross-ref refid="bib3"><ce:sup>3</ce:sup></ce:cross-ref> Thus Watson syndrome and “neurofibromatosis-Noonan” syndromes are genetically distinct from NS. Our patient lacked neurofibromas or café au lait spots, ruling out Watson syndrome/neurofibromatosis type 1.</ce:para><ce:para>LEOPARD syndrome includes deafness as a criterion, although this is the least common finding in LEOPARD syndrome.<ce:cross-ref refid="bib6"><ce:sup>6</ce:sup></ce:cross-ref> Deafness has been used to differentiate LEOPARD syndrome from NS, but sensorineural hearing loss affects a number of cases of NS, including ours. Our patient lacked multiple lentigines, a major characteristic of LEOPARD syndrome.</ce:para><ce:para>Baraitser-Patton syndrome has been differentiated from other cardiofacial syndromes on the basis of four patients having sparse hair,<ce:cross-ref refid="bib8"><ce:sup>8</ce:sup></ce:cross-ref> although this finding also occurs in NS and CFC.<ce:cross-ref refid="bib1"><ce:sup>1</ce:sup></ce:cross-ref> CFC is characterized by sparse, curly hair, absent eyebrows, and hyperkeratotic skin lesions.<ce:cross-ref refid="bib6"><ce:sup>6</ce:sup></ce:cross-ref> Both sparse, curly hair and absent eyebrows are reported in NS, and a family with NS with hyperkeratosis similar to that of CFC has been described.<ce:cross-ref refid="bib7"><ce:sup>7</ce:sup></ce:cross-ref> Nystagmus is also described as unique to CFC, but our case and others<ce:cross-ref refid="bib4"><ce:sup>4</ce:sup></ce:cross-ref> suggest that nystagmus also occurs in NS. Our patient failed to meet criteria for CFC or Baraitser-Patton syndrome because the patient had normal head hair and eyebrow distribution and lacked hyperkeratoses. Advances in genetic analysis may allow accurate differentiation of these conditions in the future, but at present NS appears to encompass the clinical spectrum of LEOPARD, Baraitser-Patton, and CFC syndromes.</ce:para><ce:para>The incidence of hearing loss in the study of Sharland et al.<ce:cross-ref refid="bib3"><ce:sup>3</ce:sup></ce:cross-ref> of 151 patients with NS was 40%; 91% of these patients had conductive losses and 9% had sensorineural loss. Another series found conductive hearing loss in 12% of patients.<ce:cross-ref refid="bib9"><ce:sup>9</ce:sup></ce:cross-ref> In eight individual case reports of patients with NS with hearing loss, two noted conductive losses, four had sensorineural losses (one with profound deafness), and two had mixed losses.<ce:cross-refs refid="bib10 bib11 bib12 bib13 bib14"><ce:sup>10-14</ce:sup></ce:cross-refs> Audiograms were provided in one case.<ce:cross-ref refid="bib11"><ce:sup>11</ce:sup></ce:cross-ref> Our patient had serous otitis in childhood and progressive sensorineural hearing loss in adulthood. A tendency for delayed sensorineural losses in adulthood would result in underreporting of sensorineural hearing loss in the syndrome, because the larger NS series contain many more children than adults. Studies of the pattern of hearing loss over time would be useful.</ce:para><ce:para>Nystagmus affects 9% of patients with NS.<ce:cross-ref refid="bib4"><ce:sup>4</ce:sup></ce:cross-ref> Only one individual case report mentions nystagmus (type not specified).<ce:cross-ref refid="bib15"><ce:sup>15</ce:sup></ce:cross-ref> In our patient a centrally mediated, gaze-evoked nystagmus coexisted with a positional nystagmus, intermittent bouts of vertigo, and progressive loss of hearing and caloric responses bilaterally. These findings suggest peripheral labyrinthine disease, as well as a central disorder. Neurologic abnormalities such as epilepsy and peripheral neuropathy occur in NS in the absence of gross structural lesions,<ce:cross-ref refid="bib3"><ce:sup>3</ce:sup></ce:cross-ref> and no structural lesions were identified in our patient. Autopsy studies may help define microstructural abnormalities in NS.</ce:para><ce:para>Lymphatic dysplasia resulting in fetal lymphedema has been postulated as a cause of the widespread abnormalities of NS. The mechanism of hearing loss is unknown. Malformation of the ossicles has been reported in a single case.<ce:cross-ref refid="bib10"><ce:sup>10</ce:sup></ce:cross-ref> Structural abnormalities may predispose these individuals to recurrent otitis media and conductive hearing loss. Sensorineural hearing loss may result from endolymphatic hydrops or structural abnormalities of the cochlea that are not detectable antemortem by present technology.</ce:para><ce:para>Because many characteristics of NS involve the head and neck, NS should be identified easily by the otolaryngologist. One of the most frequently noted findings, and one of the few findings that persists unchanged during the lifespan, is that of posteriorly rotated, apparently low-set ears. The presence of typical auricle deformities in a patient with vestibular or auditory abnormalities should alert the clinician to the possibility of this disorder.</ce:para><ce:para>In conclusion, this report documents auditory and vestibular testing in a case of NS with progressive bilateral loss of auditory and vestibular function in adulthood. Although the patient does not meet clinical criteria for LEOPARD, CFC, or Baraitser-Patton syndromes, he shares features of sensorineural hearing loss and nystagmus usually considered more typical of these disorders than of NS. This phenotypic overlap suggests that these syndromes may represent variants of NS rather than genetically distinct syndromes. 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version="3.6"><titleInfo lang="en"><title>Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities</title></titleInfo><name type="personal"><namePart type="given">CAROL A.</namePart><namePart type="family">FOSTER</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">PAULA J.</namePart><namePart type="family">DYHRKOPP</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="Full-length article"></genre><originInfo><publisher>ELSEVIER</publisher><dateIssued encoding="w3cdtf">1998</dateIssued><copyrightDate encoding="w3cdtf">1998</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><note>From the Departments of Otolaryngology–Head and Neck Surgery (Dr. Foster) and Audiology (Ms. Dyhrkopp), University of Colorado Health Sciences Center.</note><note>Reprint requests: Carol A. Foster, MD, Department of Otolaryngology, University of Colorado Health Sciences Center, 4200 E. Ninth Ave., Campus Box B205, Denver, CO 80262.</note><note>Otolaryngol Head Neck Surg 1998;119:508-11.</note><note>0194-5998/98/$5.00 + 0 23/4/79737</note><note type="content">Table 1: Comparison of physical findings in NS with other multiple congenital anomaly syndromes</note><relatedItem type="host"><titleInfo><title>Otolaryngology - Head and Neck Surgery</title></titleInfo><titleInfo type="abbreviated"><title>YMHN</title></titleInfo><genre type="journal">journal</genre><originInfo><dateIssued encoding="w3cdtf">199811</dateIssued></originInfo><identifier type="ISSN">0194-5998</identifier><identifier type="PII">S0194-5998(05)X7091-7</identifier><part><date>199811</date><detail type="volume"><number>119</number><caption>vol.</caption></detail><detail type="issue"><number>5</number><caption>no.</caption></detail><extent unit="issue pages"><start>64A</start></extent><extent unit="issue pages"><start>427</start><end>558</end></extent><extent unit="pages"><start>508</start><end>511</end></extent></part></relatedItem><identifier type="istex">6312DE01614336EC3E4023533CD1D3985C8C20EC</identifier><identifier type="DOI">10.1016/S0194-5998(98)70111-1</identifier><identifier type="PII">S0194-5998(98)70111-1</identifier><accessCondition type="use and reproduction" contentType="copyright">©1998 American Academy of Otolaryngology–Head and Neck Surgery Foundation, Inc</accessCondition><recordInfo><recordContentSource>ELSEVIER</recordContentSource><recordOrigin>American Academy of Otolaryngology–Head and Neck Surgery Foundation, Inc, ©1998</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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