Genetic syndromes involving hearing

International Journal of Pediatric Otorhinolaryngology

Volumn 73, Issue SUPPL.1, 2009, Pages

  Martini, Alessandro ^a   Calzolari, Ferdinando ^a   Sensi, Alberto ^a  

^a UNIVERSITY HOSPITAL OF FERRARA   (Italy)

Author keywords

Genetic syndromes; Hearing loss; Pediatric

Indexed keywords

ARTICLE; AUDITORY SYSTEM FUNCTION; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; EXTERNAL EAR MALFORMATION; GENE CONTROL; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; HEARING; HEARING IMPAIRMENT; HUMAN; HUMAN GENETICS; HUMAN GENOME; MEDICAL SPECIALIST; MONOGENIC DISORDER; NEUROLOGIC EXAMINATION; PATHOPHYSIOLOGY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; PROTEIN ANALYSIS; RADIODIAGNOSIS; RADIOLOGIST; RECURRENCE RISK; TEAMWORK;

FEMALE; GENE EXPRESSION; GENETIC TESTING; GENOME, HUMAN; HEARING DISORDERS; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; SYNDROME;

EID: 72049122139     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-5876(09)70002-3     Document Type: Article

References (86)

1. Yoshinaga-Itano C., Sedey A.L., Coulter D.K., and Mehl A.L. Language of early- and later-identified children with hearing loss. Pediatrics 102 (1998) 1161-1171
2. Yoshinaga-Itano C. Universal newborn hearing screening programs and developmental outcomes. Audiol Med 1 (2003) 199-206
3. Moeller M.P. Early intervention and language development in children who are deaf and hard of hearing. Pediatrics 106 3 (2000) E43
4. http://dnalab-www.uia.ac.be/dnalab/hhh
5. Gerstein M.B., Bruce C., Rozoesky J.S., Zheng D., Du J., Korbel J.O., Emanuelsson O., Zhang Z.D., Weissman S., and Snyder M. What is a gene, post-ENCODE? History and updated definition. Genome Res 17 6 (2007) 669-681
6. Steel K.P. Similarities between mice and humans with hereditary deafness. Ann NY Acad Sci 630 (1991) 69-79
7. Brown S.D.M., and Steel K.P. Mouse models of human hearing impairment. In: Martini A., Read A.P., and Stephens D. (Eds). Genetics and Hearing Impairment (1996), Whurr Publishers, London 53-63
8. Reardon W. Newly emerging concepts in syndromology relevant to audiology. In: Martini A., Stephens D., and Read A.P. (Eds). Genes, Hearing and Deafness (2007), Informa, London 39-54
9. Shprintzen R.J. Genetics, Syndrome and Communication Disorders (1997), Singular Publ. Group, St. Diego
10. Cohen M. An update on the holoprosencephalic disorders. J Pediatr 101 (1982) 5-9
11. Ludman C.N. Recent advances in magnetic resonance imaging of the inner ear. Audiol Med 9 (2000) 191-204
12. Phelps P. Radiological abnormalities of the ear. In: Newton V. (Ed). Pediatric Audiological Medicine (2002), Wurr Publishers, London & Philadelphia 36-64
13. Pendred V. Deaf mutism and goitre. Lancet 532 (1896) ii
14. Stinckens C., Huygen P., Van-Camp G., and Cremers C.W.R.J. Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss. In: Cremers C.W.R.J., and Smith R.J.H. (Eds). Genetic Hearing Impairment - Advances in Oto-rhino Laryngology (2002), Karger, Basel 131-141
15. Ciorba A., Schrott-Fisher A., Berto A., Glueckert R., Janecke A., and Martini A. Histopathological and neurordiological features of Usher syndrome type II. B-ENT 4 4 (2008) 201-206
16. Toriello H.V., Reardon W., and Gorlin R.J. Hereditary Hearing Loss and Its Syndromes. 2nd ed. (2004), Oxford University Press Inc.
17. Sensi A., Prontera P., Buldrini B., Palma S., Aiello V., Gruppioni R., et al. Cytogenetic and array CGH characterization o fan intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype. Am J Med Genet A 146A 1 (2008) 110-115
18. Calzolari F., and Martini A. Radiological abnormalities of the ear. In: Newton V. (Ed). Pediatric Audiology (2009), Wiley, London (in press).
19. Bader D., Grun M., Riskin-Mashiah S., et al. Auricolar mild errors of morpho-genesis: epidemiological analysis, local correlations and clinical significance. Ann Genet 47 (2004) 225-234
20. Weerda H. Classification of congenital deformities of the auricle. Fac Plast Surg 5 (1988) 385-388
21. Eurocat: European Surveillance of Congenital Anomalies, 2003. http://www.eurocat.ulster.ac.uk/
22. Mayer T.E., Brueckmann H., Siegert R., Witt A., and Weerda H. High-resolution CT of the temporal bone in dysplasia of the auricle and external auditory canal. Am J Neuroradiol 18 (1997) 53-65
23. Calzolari F., Garani G., Sensi A., and Martini A. Clinical and radiological evaluation in children with microtia. Br J Audiol 33 (1999) 303-312
24. Girard N., Raybaud C.H., Locatelli P., and Magnan J. Ear malformations. Riv Neuroradiol 8 (1995) 793-814
25. Takegoshi H., and Kaga K. Difference in facial canal anatomy in terms of severity of microtia and deformity of middle ear in patients with microtia. Laryngoscope 113 (2003) 635-639
26. Lambert P.R., and Dodson E.E. Congenital malformations of the external auditory canal. Otolaryngol Clin North Am 29 (1996) 741-760
27. Calzolari F. Diagnostica per immagini delle malformazioni congenite dell' orecchio esterno e dell' orecchio medio. In: Martini A. (Ed). Genetica della Funzione Uditiva Normale e Patologica (2006), Omega Edizioni, Torino 323-343
28. Sze R.W., Paladin A.M., Lee S., and Cunningham M.L. Hemifacial microsomia in pediatric patients: asymmetric abnormal development of the first and second branchial arches. Am J Roentgenol 178 (2002) 1523-1530
29. Calzolari F., Sarti E., Sensi A., Garani G., Clauser L., and Martini A. Malformazioni dell' orecchio nelle anomalie congenite cranio-facciali. Riv Neuroradiol 16 (2003) 411-420
30. Moore K.L., and Persaud T.V.N. The Developing Human (1993), WB Saunders, Philadelphia
31. Ishimoto S., Ito K., Yamasoba T., Kondo K., Karino S., Takegoshi H., et al. Correlation between microtia and temporal bone malformation evaluated using grading system. Arch Otolaryngol Head Neck Surg 131 (2005) 326-329
32. Kountakis S.E., Helidonis E., and Jahrsdoerfer R.A. Microtia grade as an indicator of middle ear development in aural atresia. Arch Otolaryngol Head Neck Surg 121 (1995) 885-886
33. Zeifer B., Sabini P., and Sonne J. Congenital absence of the oval window: radiologic diagnosis and associated anomalies. Am J Neuroradiol 21 (2000) 322-327
34. Jahrsdoerfer R.A. The facial nerve in congenital middle ear malformations. Laryngoscope 91 (1981) 1217-1225
35. Al-Mazrou K.A., Alorainy I.A., Al-Dousary S.H., and Richardson M.A. Facial nerve anomalies in association with congenital hearing loss. Int J Pediatr Otorhinolaryngol 67 (2003) 1347-1353
36. Tian Q., Linthicum Jr. F.H., and Fayad J.N. Human cochleae with three turns: an unreported malformation. Laryngoscope 116 (2006) 800-803
37. Shim H.J., Shin J.E., Chung J.W., and Lee K.S. Inner ear anomalies in cochlear implantees: importance of radiologic measurements in the classification. Otol Neurotol 27 (2006) 831-837
38. Sennaroglu L., and Saatci I. A new classification for cochleovestibular malformations. Laryngoscope 112 (2002) 2230-2241
39. Jackler R.K., Luxford W.M., and House W.F. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 97 (1987) 2-14
40. van de Heyning P., Declau F., Martini A., et al. The European congenital ear anomaly inventory. In: Martini A., Mazzoli M., Stephens D., et al. (Eds). Definitions, Protocols and Guidelines in Genetic Hearing Impairment (2001), Whurr Publishers, London 44-49
41. Sennaroglu L., and Saatci I. Unpartitioned versus incompletely partitioned cochleae: radiologic differentiation. Otol Neurotol 25 (2004) 520-529
42. Krombach G.A., Schmitz-Rode T., Haage P., DiMartino E., Prescher A., Kinzel S., et al. Semicircular canal dehiscence: comparison of T2-weighted turbo spin-echo MRI and CT. Neuroradiology 46 (2004) 326-331
43. Davidson H.C., Harnsberger H.R., Lemmerling M.M., Mancuso A.A., White D.K., Tong K.A., et al. MR evaluation of vestibulocochlear anomalies associated with large endolymphatic duct and sac. Am J Neuroradiol 20 (1999) 1435-1441
44. Koesling S., Rasinski C., and Amaya B. Imaging and clinical findings in large endolymphatic duct and sac syndrome. Eur J Radiol 57 (2006) 54-62
45. Marsot-Dupuch K., and Meyer B. Cochlear implant assessment: imaging issues. Eur J Radiol 40 (2001) 119-132
46. Casselman J.W., Offeciers F.E., Govaerts P.J., Kuhweide R., Geldof H., Somers T., et al. Aplasia and hypoplasia of the vestibulocochlear nerve: diagnosis with MR imaging. Radiology 202 (1997) 773-781
47. Sennaroglu L., and Saatci I. A new classification for cochleovestibular malformations. Laryngoscope 112 (2002) 2230-2241
48. Casselman J.W., Offeciers E.F., De Foer B., Govaerts P., Kuhweide R., and Somers T. CT and MR imaging of congenital abnormalities of the inner ear and internal auditory canal. Eur J Radiol 40 (2001) 94-104
49. Balkany T.J., Hodges A.V., Eshraghi A.A., Butts S., Bricker K., Lingvai J., et al. Cochlear implants in children - a review. Acta Otolaryngol 122 (2002) 356-362
50. Ramsden R., Saeed S., and Aggarwal R. Cochlear implantation in genetic deafness. In: Martini A., Stephens D., and Read A.P. (Eds). Genes, Hearing and Deafness (2007), Informa, London 253-262
51. Berker N., Acaroglu G., and Soykan E. Goldenhar's syndrome (Oculo-Auriculo-Vertebral dysplasia) with congenital facial nerve palsy. Yonsei Med J 45 (2004) 157-160
52. Scholtz A.W., Fish III J.H., Kammen-Jolly K., Ichiki H., Hussl B., Kreczy A., et al. Goldenhar's syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study. Otol Neurotol 22 (2001) 501-505
53. Stanojević M., Stipoljev F., Koprcina B., and Kurjak A. Oculo-auriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: coincidental findings or etiologic factor?. J Craniofac Genet Dev Biol 20 (2000) 150-154
54. Miura M., Sando I., Takasaki K., Haginomori S., and Hirsch B.E. Histopathologic study of temporal bone and eustachian tube in oculoauriculovertebral spectrum. Ann Otol Rhinol Laryngol 110 (2001) 922-927
55. Ottaviano G., Calzolari F., and Martini A. Goldenhar syndrome in association with agenesia of the internal carotid artery. Int J Pediatr Otorhinolaryngol 71 3 (2007) 509-512
56. Rosenhal T.H. Aplasia-hypoplasia of the otic labirynth after thalidomide. Acta Radiol 3 (1965) 225-236
57. Gustavson E.E., and Chen H. Goldenhar syndrome anterior encephalocele and aqueductal stenosis following fetal primidone exposure. Teratology 32 (1985) 13-17
58. Grix Jr. A. Malformations in infants of diabetic mothers. Am J Med Genet 13 (1982) 131-137
59. Budden S.S., and Robinson G.C. Oculoauricular vertebral dysplasia. Am J Dis Child 125 (1973) 431-433
60. Posnick J.C., and Ruiz R.L. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J 37 (2000) 483/1-48322
61. Pron G., Galloway C., Armstrong D., and Posnick J. Ear malformation and hearing loss in patients with Treacher Collins syndrome. Cleft Palate Craniofac J 30 (1993) 97-103
62. Pinsky L. Penetrance and variability of major malformation syndromes associated with deafness. Birth Defects 15 (1979) 207-226
63. Abdelhak S., Kalatzis V., Heilig R., Compain S., Samson D., Vincent C., et al. A human homologue of the Drosophila eyes absent gene underlies banchiooto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15 (1997) 157-164
64. Migliosi V., Flex E., Guida V., Martini A., Giarbini N., Markova T., et al. Identification off ive novel BOR mutations in humans EYA1 gene associated with branchio-oto-renal syndrome by a DHLPC-based assay. Clin Genet 66 5 (2004) 478-480
65. Martini A., Comacchio F., Vio S., and Candiani F. Branchio-oto-renal syndrome and branchio-oto-dysplasia: report of eight new cases. Am J Otol 8 (1987) 116-122
66. Kumar S., Marres H.A., and Kimberling W.J. Autosomal-dominant branchio-oto-renal (BOR) gene at 8q13. Am J Med Genet 76 (1998) 395-401
67. Fraser F.C., Ling D., Clogg D., and Nogrady B. Genetic aspect of the BOR syndrome - branchial fistulas, ear pits, hearing loss and renal anomalies. Am J Hum Genet 2 (1978) 241-252
68. Ceruti S., Stinckens C., Cremers C.W., and Casselman J.W. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. Otol Neurotol 23 (2002) 200-207
69. Propst E.J., Blaser S., Gordon K.A., Harrison R.V., and Papsin B.C. Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope 115 (2005) 1855-1862
70. Cremers C.W., Thijssen H.O., Fischer A.J., and Marres E.H. Otological aspects of earpit-deafness syndrome. ORL J Otolaryngol Relat Spec 43 (1981) 223-239
71. Huang F., Sweet R., and Tewfik T.L. Apert syndrome and hearing loss with ear anomalies: a case report and literature review. Int J Pediatr Otorhinolaryngol 68 (2004) 495-501
72. Orvidas L.J., Fabry L.B., Diacova S., and McDonald T.J. Hearing and otopathology in Crouzon syndrome. Laryngoscope 109 (1999) 1372-1375
73. van Die A., de Groot J.A., Zonneveld F.W., Vaandrager J.M., and Beck F.J. Dehiscence of the jugular bulb in Crouzon's disease. Laryngoscope 105 (1995) 432-434
74. Rahbar R., Robson C.D., Mulliken J.B., Schwartz L., Dicanzio J., Kenna M.A., et al. Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia. Arch Otolaryngol Head Neck Surg 127 (2001) 265-271
75. Wan J., Meara J.G., Kovanlikaya A., Nelson M.D., and Don D. Clinical, radiological, and audiological relationships in hemifacial microsomia. Ann Plast Surg 51 (2003) 161-166
76. Haginomori S., Sando I., Miura M., and Casselbrant M.L. Temporal bone histopathology in CHARGE association. Ann Otol Rhinol Laryngol 111 (2002) 397-401
77. Morimoto A.K., Wiggins III R.H., Hudgins P.A., Hedlund G.L., Hamilton B., Mukherji S.K., et al. Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. Am J Neuroradiol 27 (2006) 1663-1671
78. Oeken J., Konig E., Kosling S., and Meister E. Mittelohrmißbildungen beim Klippel-Feil-Syndrom. HNO 44 (1996) 521-525
79. Dubey S.P., and Ghosh L.M. Klippel-Feil syndrome with congenital conductive deafness: report of a case and review of literature. Int J Pediatr Otorhinolaryngol 25 (1993) 201-208
80. Segal N., and Puterman M. Cleidocranial dysplasia - review with an emphasis on otological and audiological manifestations. Int J Pediatr Otorhinolaryngol 71 (2007) 523-526
81. Blaser S., Propst E.J., Martin D., Feigenbaum A., James A.L., Shannon P., et al. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope 116 (2006) 2113-2119
82. Yan D., and Liu X.Z. Cochlear molecules and hereditary deafness. Front Biosci 13 (2008) 4972-4983
83. Leibovici M., Safieddine S., and Petit C. Mouse models for human hereditary deafness. Curr Top Dev Biol 84 (2008) 385-429
84. Alsmadi O., Meyer B.F., Alkuraya F., Wakil S., Alkayal F., Al-Saud H., et al. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet 17 (2009) 14-21
85. Gasparini P., and Read A.P. What genetic testing can offer. In: Martini A., Stephens D., and Read A.P. (Eds). Genes, Hearing and Deafness (2007), Informa, London 213-218
86. Parving A. Early detection ans assessment of genetic childhood hearing impairment. In: Martini A., Stephens D., and Read A.P. (Eds). Genes, Hearing and Deafness (2007), Informa, London 205-211