Orofacial manifestations of the Levy-Hollister syndrome
DOI:
https://doi.org/10.5935/2525-5711.20160016Keywords:
dental anomalies, diagnosis, digital anomalies, hereditary disorderAbstract
The Levy–Hollister syndrome, also known as the lacrimo-auriculo-dento-digital (LADD) syndrome, shows different phenotypes, resulting in a variety of local and systemic signs and symptoms. It is a rare hereditary disorder that mainly causes lacrimal, auricular, and auditory apparatus disturbances and dental and digital anomalies. Here, we describe a case of the Levy–Hollister syndrome in a 24-year-old woman and focus on its orofacial manifestations. The patient had chronic lacrimation, low-set ears, thumb agenesis, elbows with limited pronation and supination movements, pronounced hallux on the left foot, concave facial profile, and tooth roots with atypical morphology.The case emphasizes the importance of a multidisciplinary approach for early diagnosis of the Levy–Hollister syndrome.
References
Levy WJ. Mesoectodermal dysplasia. A new combination of anomalies. Am J Ophthalmol. 1967;63(5):978-82.
Hollister DW, Klein SH, De Jager HJ, Lachman RS, Rimoin DL. The lacrimo-auriculo-dento-digital syndrome. J Pediatr. 1973;83:438-444.
Lew ED, Bae JH, Rohmann E, Wollnik B, Schlessinger J. Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. PNAS. 2007;104:19802-7.
Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, et al. 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.
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 Otorhinol. 2006;70:1307-1314.
Ramirez D, Lammer EJ. Lacrimoauriculodentodigital Syndrome With Cleft Lip/Palate and Renal Manifestations. Cleft Palate Craniofac J. 2004;41(5):501-6.
Thompson E, Pembrey M, Graham JM. Phenotypic variation in LADD syndrome. J Med Genet. 1985;22(5):382-5.
Wiedemann HR, Drescher J. LADD syndrome, report of new cases and review of the clinical spectrum. Eur J Pediatr. 1986;144(6):579-82.
Heinz GW, Bateman JB, Barrett DJ, Thangavel M, Crandall BF. Ocular manifestations of the lacrimo-auriculo-dento-digital syndrome. Am J Ophthalmol. 1993;115(2):243-8.
Fierek O, Laskawi R, Bönnemann C, Hanefeld F. Das Levy Hollister-Syndrom: Ein Dysplasiesyndrom mit HNO-Manifestationen. HNO. 2003;51(8):654-7.
Ensink RJ, Cremers CW, Brunner HG. Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome. Arch Otolaryngol Head Neck Surg. 1997;123(1):97-9.
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(5):352-354.
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(3):362-4.
Azar T, Scott JA, Arnold JE, Robin NH. Epiglottic hypoplasia associated with lacrimo-auriculo-dental-digital syndrome. Ann Otol Rhinol Laryngol. 2000;109(8 Pt 1):779-81.
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(1):85-91.
Roodhooft AM, Brussaard CC, Elst E, Van Acker KJ. Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. Clin Genet. 1990;38(3):228-32.
Bamforth JS, Kaurah P. Lacrimo-auriculo-dento-digital syndrome. Evidence of lower limb involvement and severe congenital renal anomalies. Am Med Genet. 1992;43(6):932-7.
Lehotay M, Kunkel M, Wehrbein H. Lacrimo-Auriculo-Dento-Digital Syndrome. Case Report, Review of the Literature, and Clinical Spectrum. J Orofac Orthop. 2004;65(5):425-32.
Azañero WAD, Dulanto MA, Miranda HG, Michelena M I. Síndrome lacrimo-auriculo-dento-digital. Rev Estomatol Hered. 1996;6:22-5.
Neville BW, Damm DD, Allen CM. Patologia Oral e Maxilofacial. Rio de Janeiro: Guanabara Koogan, 2004.
