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Published in: Clinical Neuroradiology 3/2013

01-09-2013 | Correspondence

Lacrimo-Auriculo-Dento-Digital Syndrome with Unilateral Inner Ear Dysplasia and Craniocervical Osseous Abnormalities: Case Report and Review of Literature

Author: J. E. Moses, MD, DM

Published in: Clinical Neuroradiology | Issue 3/2013

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Excerpt

The lacrimo-auriculo-dento-digital-syndrome (LADD) syndrome is a rare autosomal dominant inherited disorder primarily affecting the lacrimal system, the auditory apparatus and the osseous system. It is also known as Levy-Hollister syndrome. We present a child with phenotypic manifestation of LADD syndrome presenting with deafness and mucopurulent discharge from both eyes. Multiple congenital anomalies were visualized on CT imaging for the temporal bones. A large foramen magnum and vertebral fusion anomalies of the cervical spine were noted. An association between LADD syndrome and vertebral fusion anomalies has not been previously reported. …
Literature
1.
go back to reference Levy WJ. Mesoectodermal dysplasia. A new combination of anomalies. Am J Ophthalmol. 1967;63:978–82.PubMed Levy WJ. Mesoectodermal dysplasia. A new combination of anomalies. Am J Ophthalmol. 1967;63:978–82.PubMed
2.
go back to reference Hollister DW, Klein SH, De Jager HJ, Lachman RS, Rimoin DL. The lacrimo-auriculo-dento-digital syndrome. J Pediatr. 1973;83:438–44.PubMedCrossRef Hollister DW, Klein SH, De Jager HJ, Lachman RS, Rimoin DL. The lacrimo-auriculo-dento-digital syndrome. J Pediatr. 1973;83:438–44.PubMedCrossRef
3.
go back to reference Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CWRJ, Yüksel-Apak M, Nürnberg P, Kubisch C, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006;38:414–7.PubMedCrossRef Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CWRJ, Yüksel-Apak M, Nürnberg P, Kubisch C, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006;38:414–7.PubMedCrossRef
4.
go back to reference Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I. Lacrimo-Auriculo-Dento-Digital Syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway. Mol Cell Biol. 2007;27:6903–12.PubMedCrossRef Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I. Lacrimo-Auriculo-Dento-Digital Syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway. Mol Cell Biol. 2007;27:6903–12.PubMedCrossRef
5.
go back to reference Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev. 2005;16:139–49.PubMedCrossRef Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev. 2005;16:139–49.PubMedCrossRef
6.
go back to reference Inan UU, Yilmaz MD, Demir Y, Degirmenci B, Ermis SS, Ozturk F. Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. Int J Pediatr Otorhinolaryngol. 2006;70:1307–14.PubMedCrossRef Inan UU, Yilmaz MD, Demir Y, Degirmenci B, Ermis SS, Ozturk F. Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review. Int J Pediatr Otorhinolaryngol. 2006;70:1307–14.PubMedCrossRef
7.
go back to reference Haktanir A, Degirmenci B, Acar M, Albayrak R, Yücel A. CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome. Dentomaxillofac Radiol. 2005;34:102–5.PubMedCrossRef Haktanir A, Degirmenci B, Acar M, Albayrak R, Yücel A. CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome. Dentomaxillofac Radiol. 2005;34:102–5.PubMedCrossRef
8.
go back to reference Ostuni PA, Modolo M, Revelli P, Secchi A, Battista C, Tregnaghi A, Andretta ML, Todesco S. Lacrimo-auricolo-dento-digital syndrome mimicking primary juvenile Sjögren’s syndrome. Scand J Rheumatol. 1995;24:55–7.PubMedCrossRef Ostuni PA, Modolo M, Revelli P, Secchi A, Battista C, Tregnaghi A, Andretta ML, Todesco S. Lacrimo-auricolo-dento-digital syndrome mimicking primary juvenile Sjögren’s syndrome. Scand J Rheumatol. 1995;24:55–7.PubMedCrossRef
9.
go back to reference Shiang EL, Holmes LB. The lacrimo-auriculo-dento-digital syndrome. Pediatrics. 1977;59:927–30.PubMed Shiang EL, Holmes LB. The lacrimo-auriculo-dento-digital syndrome. Pediatrics. 1977;59:927–30.PubMed
10.
11.
go back to reference McKenna GJ, Burke FM, Mellan K. Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. Eur Arch Paediatr Dent. 2009;10 Suppl 1:35–9.PubMedCrossRef McKenna GJ, Burke FM, Mellan K. Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient. Eur Arch Paediatr Dent. 2009;10 Suppl 1:35–9.PubMedCrossRef
12.
go back to reference Heinz GW, Bateman JB, Barrett DJ, Thangavel M, Crandall BF. Ocular manifestations of the lacrimo-auriculo-dento-digital syndrome. Am. J. Ophthalmol. 1993;115:243–8.PubMed Heinz GW, Bateman JB, Barrett DJ, Thangavel M, Crandall BF. Ocular manifestations of the lacrimo-auriculo-dento-digital syndrome. Am. J. Ophthalmol. 1993;115:243–8.PubMed
13.
go back to reference Guven Y, Rosti RO, Tuna EB, Kayserili H, Aktoren O. Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008;106:e33–44.PubMedCrossRef Guven Y, Rosti RO, Tuna EB, Kayserili H, Aktoren O. Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008;106:e33–44.PubMedCrossRef
14.
go back to reference Kreutz JM, Hoyme HE. Levy-Hollister syndrome. Pediatrics. 1988;82:96–9.PubMed Kreutz JM, Hoyme HE. Levy-Hollister syndrome. Pediatrics. 1988;82:96–9.PubMed
15.
go back to reference Bamforth JS, Kaurah P. Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies. Am J Med Genet. 1992;43:932–7.PubMedCrossRef Bamforth JS, Kaurah P. Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies. Am J Med Genet. 1992;43:932–7.PubMedCrossRef
16.
go back to reference Mathrawala NR, Hegde RJ. Lacrimo-auriculo-dento-digital syndrome. J Indian Soc Pedod Prev Dent. 2011;29:168–70.PubMedCrossRef Mathrawala NR, Hegde RJ. Lacrimo-auriculo-dento-digital syndrome. J Indian Soc Pedod Prev Dent. 2011;29:168–70.PubMedCrossRef
17.
go back to reference Onrat E, Kaya D, Onrat ST. Lacrimo-auriculo-dento-digital syndrome with QT prolongation. Acta Cardiol. 2003;58:567–70.PubMedCrossRef Onrat E, Kaya D, Onrat ST. Lacrimo-auriculo-dento-digital syndrome with QT prolongation. Acta Cardiol. 2003;58:567–70.PubMedCrossRef
18.
go back to reference Horn D, Witkowski R. Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. Genet. Couns. 1993;4:305–9.PubMed Horn D, Witkowski R. Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. Genet. Couns. 1993;4:305–9.PubMed
19.
go back to reference Lemmerling MM, Vanzieleghem BD, Dhooge IJ, Van Cauwenberge PB, Kunnen MF. The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings. J Comput Assist Tomogr. 1999;23:362–4.PubMedCrossRef Lemmerling MM, Vanzieleghem BD, Dhooge IJ, Van Cauwenberge PB, Kunnen MF. The Lacrimo-Auriculo-Dento-Digital (LADD) syndrome: temporal bone CT findings. J Comput Assist Tomogr. 1999;23:362–4.PubMedCrossRef
20.
go back to reference Meuschel-Wehner S, Klingebiel R, Werbs M. Inner ear dysplasia in sporadic lacrimo-auriculo-dento-digital syndrome. A case report and review of the literature. ORL J Otorhinolaryngol Relat Spec. 2002;64:352–4.PubMedCrossRef Meuschel-Wehner S, Klingebiel R, Werbs M. Inner ear dysplasia in sporadic lacrimo-auriculo-dento-digital syndrome. A case report and review of the literature. ORL J Otorhinolaryngol Relat Spec. 2002;64:352–4.PubMedCrossRef
21.
go back to reference Azar T, Scott JA, Arnold JE, Robin NH. Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome. Ann Otol Rhinol Laryngol. 2000;109:779–81.PubMed Azar T, Scott JA, Arnold JE, Robin NH. Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome. Ann Otol Rhinol Laryngol. 2000;109:779–81.PubMed
22.
go back to reference Francannet C, Vanlieferinghen P, Dechelotte P, Urbain MF, Campagne D, Malpuech G. LADD syndrome in five members of a three-generation family and prenatal diagnosis. Genet Couns. 1994;5:85–91.PubMed Francannet C, Vanlieferinghen P, Dechelotte P, Urbain MF, Campagne D, Malpuech G. LADD syndrome in five members of a three-generation family and prenatal diagnosis. Genet Couns. 1994;5:85–91.PubMed
23.
go back to reference Roodhooft AM, Brussaard CC, Elst E, van Acker KJ. Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. Clin Genet. 1990;38:228–32.PubMedCrossRef Roodhooft AM, Brussaard CC, Elst E, van Acker KJ. Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. Clin Genet. 1990;38:228–32.PubMedCrossRef
24.
go back to reference Ramirez D, Lammer EJ. Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. Cleft Palate-Craniofac J. 2004;41:501–6.PubMedCrossRef Ramirez D, Lammer EJ. Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. Cleft Palate-Craniofac J. 2004;41:501–6.PubMedCrossRef
25.
go back to reference Fraser FC, Ling D, Clogg D, Nogrady B, Gorlin RJ. Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet. 1978;2:241–52.PubMedCrossRef Fraser FC, Ling D, Clogg D, Nogrady B, Gorlin RJ. Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet. 1978;2:241–52.PubMedCrossRef
26.
Metadata
Title
Lacrimo-Auriculo-Dento-Digital Syndrome with Unilateral Inner Ear Dysplasia and Craniocervical Osseous Abnormalities: Case Report and Review of Literature
Author
J. E. Moses, MD, DM
Publication date
01-09-2013
Publisher
Springer Berlin Heidelberg
Published in
Clinical Neuroradiology / Issue 3/2013
Print ISSN: 1869-1439
Electronic ISSN: 1869-1447
DOI
https://doi.org/10.1007/s00062-012-0170-1

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