Otodental syndrome

Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar tee...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Bloch-Zupan, Agnès [verfasserIn] Goodman, Jane R

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2006

Schlagwörter:	Sensorineural Hearing Loss Permanent Dentition Pulp Chamber Coloboma Enamel Defect

Anmerkung:	© Bloch-Zupan and Goodman; licensee BioMed Central Ltd. 2006

Übergeordnetes Werk:	Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 1(2006), 1 vom: 21. März
Übergeordnetes Werk:	volume:1 ; year:2006 ; number:1 ; day:21 ; month:03

Links:	Volltext

DOI / URN:	10.1186/1750-1172-1-5

Katalog-ID:	SPR029481384

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520			\|a Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.
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allfields	10.1186/1750-1172-1-5 doi (DE-627)SPR029481384 (SPR)1750-1172-1-5-e DE-627 ger DE-627 rakwb eng Bloch-Zupan, Agnès verfasserin aut Otodental syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bloch-Zupan and Goodman; licensee BioMed Central Ltd. 2006 Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary. Sensorineural Hearing Loss (dpeaa)DE-He213 Permanent Dentition (dpeaa)DE-He213 Pulp Chamber (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Enamel Defect (dpeaa)DE-He213 Goodman, Jane R aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 1(2006), 1 vom: 21. März (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:1 year:2006 number:1 day:21 month:03 https://dx.doi.org/10.1186/1750-1172-1-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2006 1 21 03
spelling	10.1186/1750-1172-1-5 doi (DE-627)SPR029481384 (SPR)1750-1172-1-5-e DE-627 ger DE-627 rakwb eng Bloch-Zupan, Agnès verfasserin aut Otodental syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bloch-Zupan and Goodman; licensee BioMed Central Ltd. 2006 Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary. Sensorineural Hearing Loss (dpeaa)DE-He213 Permanent Dentition (dpeaa)DE-He213 Pulp Chamber (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Enamel Defect (dpeaa)DE-He213 Goodman, Jane R aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 1(2006), 1 vom: 21. März (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:1 year:2006 number:1 day:21 month:03 https://dx.doi.org/10.1186/1750-1172-1-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2006 1 21 03
allfields_unstemmed	10.1186/1750-1172-1-5 doi (DE-627)SPR029481384 (SPR)1750-1172-1-5-e DE-627 ger DE-627 rakwb eng Bloch-Zupan, Agnès verfasserin aut Otodental syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bloch-Zupan and Goodman; licensee BioMed Central Ltd. 2006 Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary. Sensorineural Hearing Loss (dpeaa)DE-He213 Permanent Dentition (dpeaa)DE-He213 Pulp Chamber (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Enamel Defect (dpeaa)DE-He213 Goodman, Jane R aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 1(2006), 1 vom: 21. März (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:1 year:2006 number:1 day:21 month:03 https://dx.doi.org/10.1186/1750-1172-1-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2006 1 21 03
allfieldsGer	10.1186/1750-1172-1-5 doi (DE-627)SPR029481384 (SPR)1750-1172-1-5-e DE-627 ger DE-627 rakwb eng Bloch-Zupan, Agnès verfasserin aut Otodental syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bloch-Zupan and Goodman; licensee BioMed Central Ltd. 2006 Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary. Sensorineural Hearing Loss (dpeaa)DE-He213 Permanent Dentition (dpeaa)DE-He213 Pulp Chamber (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Enamel Defect (dpeaa)DE-He213 Goodman, Jane R aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 1(2006), 1 vom: 21. März (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:1 year:2006 number:1 day:21 month:03 https://dx.doi.org/10.1186/1750-1172-1-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2006 1 21 03
allfieldsSound	10.1186/1750-1172-1-5 doi (DE-627)SPR029481384 (SPR)1750-1172-1-5-e DE-627 ger DE-627 rakwb eng Bloch-Zupan, Agnès verfasserin aut Otodental syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bloch-Zupan and Goodman; licensee BioMed Central Ltd. 2006 Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary. Sensorineural Hearing Loss (dpeaa)DE-He213 Permanent Dentition (dpeaa)DE-He213 Pulp Chamber (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Enamel Defect (dpeaa)DE-He213 Goodman, Jane R aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 1(2006), 1 vom: 21. März (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:1 year:2006 number:1 day:21 month:03 https://dx.doi.org/10.1186/1750-1172-1-5 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 1 2006 1 21 03
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source	Enthalten in Orphanet journal of rare diseases 1(2006), 1 vom: 21. März volume:1 year:2006 number:1 day:21 month:03
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author	Bloch-Zupan, Agnès
spellingShingle	Bloch-Zupan, Agnès misc Sensorineural Hearing Loss misc Permanent Dentition misc Pulp Chamber misc Coloboma misc Enamel Defect Otodental syndrome
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topic_title	Otodental syndrome Sensorineural Hearing Loss (dpeaa)DE-He213 Permanent Dentition (dpeaa)DE-He213 Pulp Chamber (dpeaa)DE-He213 Coloboma (dpeaa)DE-He213 Enamel Defect (dpeaa)DE-He213
topic	misc Sensorineural Hearing Loss misc Permanent Dentition misc Pulp Chamber misc Coloboma misc Enamel Defect
topic_unstemmed	misc Sensorineural Hearing Loss misc Permanent Dentition misc Pulp Chamber misc Coloboma misc Enamel Defect
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title_sort	otodental syndrome
title_auth	Otodental syndrome
abstract	Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary. © Bloch-Zupan and Goodman; licensee BioMed Central Ltd. 2006
abstractGer	Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary. © Bloch-Zupan and Goodman; licensee BioMed Central Ltd. 2006
abstract_unstemmed	Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary. © Bloch-Zupan and Goodman; licensee BioMed Central Ltd. 2006
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title_short	Otodental syndrome
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score	7.401348

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Otodental syndrome

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Zugang & Verfügbarkeit

Vorhandene Bände

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