A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies
We report on a 17‐year‐old man who presented with unreported combination of right sided microtia and preauricular skin tag with conductive hearing loss, unilateral renal agenesis, partial syndactyly of forth and fifth metacarpals, multiple tarsal coalitions, absent toe, and hypoplastic tibia and fib...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2006-04, Vol.140A (7), p.747-751 |
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| container_title | American journal of medical genetics. Part A |
| container_volume | 140A |
| creator | Demir, Yavuz Samli, Hale Yucel, Aylin Yilmaz, M. Deniz Haktanir, Nurten Turhan Maralcan, Gokhan Solak, Mustafa |
| description | We report on a 17‐year‐old man who presented with unreported combination of right sided microtia and preauricular skin tag with conductive hearing loss, unilateral renal agenesis, partial syndactyly of forth and fifth metacarpals, multiple tarsal coalitions, absent toe, and hypoplastic tibia and fibula. Radiological and clinical findings did not match with the previously described syndromes with the type of anomalies seen in the case. We propose that this represents a new syndrome. © 2006 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.31147 |
| format | Article |
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Deniz ; Haktanir, Nurten Turhan ; Maralcan, Gokhan ; Solak, Mustafa</creator><creatorcontrib>Demir, Yavuz ; Samli, Hale ; Yucel, Aylin ; Yilmaz, M. Deniz ; Haktanir, Nurten Turhan ; Maralcan, Gokhan ; Solak, Mustafa</creatorcontrib><description>We report on a 17‐year‐old man who presented with unreported combination of right sided microtia and preauricular skin tag with conductive hearing loss, unilateral renal agenesis, partial syndactyly of forth and fifth metacarpals, multiple tarsal coalitions, absent toe, and hypoplastic tibia and fibula. Radiological and clinical findings did not match with the previously described syndromes with the type of anomalies seen in the case. We propose that this represents a new syndrome. © 2006 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.31147</identifier><identifier>PMID: 16502432</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - pathology ; Adolescent ; Biological and medical sciences ; Bone and Bones - abnormalities ; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology ; Ear, External - abnormalities ; Fibula - abnormalities ; Fibula - radiation effects ; fibula hypoplasia ; Foot Deformities, Congenital - diagnostic imaging ; Hand Deformities, Congenital - diagnostic imaging ; Hearing Loss, Mixed Conductive-Sensorineural - pathology ; Humans ; Kidney - abnormalities ; Kidneys ; Male ; Malformations of the urinary system ; Medical sciences ; metacarpal fusion ; microtia ; middle ear malformation ; Nephrology. Urinary tract diseases ; Non tumoral diseases ; Otorhinolaryngology. Stomatology ; Radiography ; renal agenesis ; Syndrome ; tarsal coalition ; Tibia - abnormalities ; Tibia - radiation effects ; tibia hypoplasia</subject><ispartof>American journal of medical genetics. 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Deniz</creatorcontrib><creatorcontrib>Haktanir, Nurten Turhan</creatorcontrib><creatorcontrib>Maralcan, Gokhan</creatorcontrib><creatorcontrib>Solak, Mustafa</creatorcontrib><title>A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies</title><title>American journal of medical genetics. Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>We report on a 17‐year‐old man who presented with unreported combination of right sided microtia and preauricular skin tag with conductive hearing loss, unilateral renal agenesis, partial syndactyly of forth and fifth metacarpals, multiple tarsal coalitions, absent toe, and hypoplastic tibia and fibula. Radiological and clinical findings did not match with the previously described syndromes with the type of anomalies seen in the case. We propose that this represents a new syndrome. © 2006 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - pathology</subject><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Bone and Bones - abnormalities</subject><subject>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</subject><subject>Ear, External - abnormalities</subject><subject>Fibula - abnormalities</subject><subject>Fibula - radiation effects</subject><subject>fibula hypoplasia</subject><subject>Foot Deformities, Congenital - diagnostic imaging</subject><subject>Hand Deformities, Congenital - diagnostic imaging</subject><subject>Hearing Loss, Mixed Conductive-Sensorineural - pathology</subject><subject>Humans</subject><subject>Kidney - abnormalities</subject><subject>Kidneys</subject><subject>Male</subject><subject>Malformations of the urinary system</subject><subject>Medical sciences</subject><subject>metacarpal fusion</subject><subject>microtia</subject><subject>middle ear malformation</subject><subject>Nephrology. Urinary tract diseases</subject><subject>Non tumoral diseases</subject><subject>Otorhinolaryngology. Stomatology</subject><subject>Radiography</subject><subject>renal agenesis</subject><subject>Syndrome</subject><subject>tarsal coalition</subject><subject>Tibia - abnormalities</subject><subject>Tibia - radiation effects</subject><subject>tibia hypoplasia</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkU1v2zAMho1hxdp1u-086LKd6kwfliUfg2JNWnQbMLTYUaBtOlEry6nkIM2_n9Kk7W07kYSel6T4ZtknRieMUv4N7vrFBCaCsUK9yU6YlDwvtBBvX3Iuj7P3Md5RKqhU5bvsmJWS8kLwk2w5JR43JG59G4YeydCR3jZhGC2QjR2XqXrElozbFZIlQrB-QdwQ4xkJ6MERWKDHaFMNviX92o125ZDEe3Q47t790IOzGD9kRx24iB8P8TS7vfh-cz7Pr3_NLs-n13mT9lF5XWuqoJXYtoUuVIltLSreKl4L3kBRQSdpLRXXui5ACJCl7KquaARUdZJRcZp93fddheFhjXE0vY0NOgceh3U0pVKVLsvqvyCnFZdMqwSe7cF0lhgDdmYVbA9haxg1OwvMzgID5smChH8-9F3XPbav8OHmCfhyACA24LoAvrHxlVOl1kzLxIk9t7EOt_8caqZXP2bP4_O9ysYRH19UEO7T14WS5s_Pmfl9xS_mis7NTPwFupivOw</recordid><startdate>20060401</startdate><enddate>20060401</enddate><creator>Demir, Yavuz</creator><creator>Samli, Hale</creator><creator>Yucel, Aylin</creator><creator>Yilmaz, M. Deniz</creator><creator>Haktanir, Nurten Turhan</creator><creator>Maralcan, Gokhan</creator><creator>Solak, Mustafa</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20060401</creationdate><title>A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies</title><author>Demir, Yavuz ; Samli, Hale ; Yucel, Aylin ; Yilmaz, M. Deniz ; Haktanir, Nurten Turhan ; Maralcan, Gokhan ; Solak, Mustafa</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4327-bb807ad5edd48476edb392d72b32ca49af50b57288b4a33a565f9f4c3a9bad503</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Abnormalities, Multiple - pathology</topic><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Bone and Bones - abnormalities</topic><topic>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</topic><topic>Ear, External - abnormalities</topic><topic>Fibula - abnormalities</topic><topic>Fibula - radiation effects</topic><topic>fibula hypoplasia</topic><topic>Foot Deformities, Congenital - diagnostic imaging</topic><topic>Hand Deformities, Congenital - diagnostic imaging</topic><topic>Hearing Loss, Mixed Conductive-Sensorineural - pathology</topic><topic>Humans</topic><topic>Kidney - abnormalities</topic><topic>Kidneys</topic><topic>Male</topic><topic>Malformations of the urinary system</topic><topic>Medical sciences</topic><topic>metacarpal fusion</topic><topic>microtia</topic><topic>middle ear malformation</topic><topic>Nephrology. 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| subjects | Abnormalities, Multiple - pathology Adolescent Biological and medical sciences Bone and Bones - abnormalities Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Ear, External - abnormalities Fibula - abnormalities Fibula - radiation effects fibula hypoplasia Foot Deformities, Congenital - diagnostic imaging Hand Deformities, Congenital - diagnostic imaging Hearing Loss, Mixed Conductive-Sensorineural - pathology Humans Kidney - abnormalities Kidneys Male Malformations of the urinary system Medical sciences metacarpal fusion microtia middle ear malformation Nephrology. Urinary tract diseases Non tumoral diseases Otorhinolaryngology. Stomatology Radiography renal agenesis Syndrome tarsal coalition Tibia - abnormalities Tibia - radiation effects tibia hypoplasia |
| title | A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies |
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