Skip to main content

Advertisement

SpringerLink
Log in

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

  • Correspondence
  • Published:
Clinical Neuroradiology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6

References

  1. Levy WJ. Mesoectodermal dysplasia. A new combination of anomalies. Am J Ophthalmol. 1967;63:978–82.

    PubMed  CAS  Google Scholar 

  2. Hollister DW, Klein SH, De Jager HJ, Lachman RS, Rimoin DL. The lacrimo-auriculo-dento-digital syndrome. J Pediatr. 1973;83:438–44.

    Article  PubMed  CAS  Google Scholar 

  3. 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.

    Article  PubMed  CAS  Google Scholar 

  4. 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.

    Article  PubMed  CAS  Google Scholar 

  5. Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev. 2005;16:139–49.

    Article  PubMed  CAS  Google Scholar 

  6. 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.

    Article  PubMed  Google Scholar 

  7. 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.

    Article  PubMed  CAS  Google Scholar 

  8. 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.

    Article  PubMed  CAS  Google Scholar 

  9. Shiang EL, Holmes LB. The lacrimo-auriculo-dento-digital syndrome. Pediatrics. 1977;59:927–30.

    PubMed  CAS  Google Scholar 

  10. Thompson E, Pembrey M, Graham J. Phenotypic variation in LADD syndrome. J Med Genet. 1985;22:382.

    Article  PubMed  CAS  Google Scholar 

  11. 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.

    Article  PubMed  Google Scholar 

  12. 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  CAS  Google Scholar 

  13. 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.

    Article  PubMed  Google Scholar 

  14. Kreutz JM, Hoyme HE. Levy-Hollister syndrome. Pediatrics. 1988;82:96–9.

    PubMed  CAS  Google Scholar 

  15. 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.

    Article  PubMed  CAS  Google Scholar 

  16. Mathrawala NR, Hegde RJ. Lacrimo-auriculo-dento-digital syndrome. J Indian Soc Pedod Prev Dent. 2011;29:168–70.

    Article  PubMed  Google Scholar 

  17. Onrat E, Kaya D, Onrat ST. Lacrimo-auriculo-dento-digital syndrome with QT prolongation. Acta Cardiol. 2003;58:567–70.

    Article  PubMed  Google Scholar 

  18. Horn D, Witkowski R. Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome. Genet. Couns. 1993;4:305–9.

    PubMed  CAS  Google Scholar 

  19. 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.

    Article  PubMed  CAS  Google Scholar 

  20. 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.

    Article  PubMed  Google Scholar 

  21. 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  CAS  Google Scholar 

  22. 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  CAS  Google Scholar 

  23. 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.

    Article  PubMed  CAS  Google Scholar 

  24. Ramirez D, Lammer EJ. Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations. Cleft Palate-Craniofac J. 2004;41:501–6.

    Article  PubMed  Google Scholar 

  25. 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.

    Article  PubMed  CAS  Google Scholar 

  26. Roelfsema N, Cobben J. The EEC syndrome: a literature study. Clin Dysmorphol. 1996;5:115–27.

    Article  PubMed  CAS  Google Scholar 

Download references

Conflict of Interest

The author declares that there is no actual or potential conflict of interest in relation to this article.

Author information

Authors and Affiliations

  1. Department of Radiology, Arora Neuro Center, 120, The Mall, Civil Lines, 141001, Ludhiana, Punjab, India

    J. E. Moses MD, DM

Authors
  1. J. E. Moses MD, DM
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to J. E. Moses MD, DM.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Moses, J. Lacrimo-Auriculo-Dento-Digital Syndrome with Unilateral Inner Ear Dysplasia and Craniocervical Osseous Abnormalities: Case Report and Review of Literature. Clin Neuroradiol 23, 221–224 (2013). https://doi.org/10.1007/s00062-012-0170-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00062-012-0170-1

Keywords

Search

Navigation