Branchio-oto-renal dysplasia and branchio-oto dysplasia: report of eight new cases
Martini, A.; Comacchio, F.; Candiani, F.; Vio, S.
American Journal of Otology 8(2): 116-122
1987
ISSN/ISBN: 0192-9763 PMID: 3591918 Document Number: 296974
Eight new cases of "ear-pits-deafness syndrome" are reported here; in particular, the audiometric and tomographic findings of the ear and renal echography are discussed. Although it is difficult to give a nosologic definition of the syndrome, these cases can be classified as branchio-oto-renal dysplasia and branchio-oto dysplasia.
Document emailed within 1 workday
Related Documents
Garg, A.; Wadhera, R.; Gulati, S.P.; Kumar, A. 2008: Branchio-oto-renal syndrome Journal of the Association of Physicians of India 56: 904-905Nardi, E.; Palermo, A.; Cusimano, P.; Mulè, G.; Cerasola, G. 2011: Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene Clinical Nephrology 76(4): 330-333
Markova, T.G. 2006: Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene Vestnik Otorinolaringologii 6: 25-28
Vincent, D.; Guillevin, L.; Levesque, M.; Authier, F.; Vadrot, D.; Pradalier, A.; Cherin, P. 2000: Association of macrophagic myofasciitis and fibromuscular dysplasia with renal fibromuscular dysplasia: first case report Clinical and Experimental Rheumatology 18(6): 753-754
Gorlin, R.J.; Koszalka, M.F.; Spranger, J. 1970: Pyle's disease (familial metaphyseal dysplasia). A presentation of two cases and argument for its separation from craniometaphyseal dysplasia Journal of Bone and Joint Surgery. American Volume 52(2): 347-354
Kapoor, S.; Kapur, N. 2004: Branchio-oculo-facial syndrome with valvular pulmonic stenosis Indian Pediatrics 41(11): 1180-1181
Grzybowska, B.; Golczyk-Wojnar, A.; Kapuścińska-Czerska, W.; Korniszewska, J.; Leśkiewicz, W.; Sieniawska, M. 1971: 2 cases of renal dysplasia in children Pediatria Polska 46(8): 1047-1052
Napal Lecumberri, S.; Pascual Piedrola, I.; Ipiens Aznar, A. 1992: Renal dysplasia: a review of 6 cases Archivos Espanoles de Urologia 45(2): 119-123
Oxman, H.A.; Sheps, S.G.; Bernatz, P.E.; Harrison, E.G. 1973: An unusual cause of renal arteriovenous fistula--fibromuscular dysplasia of the renal arteries. Report of a case Mayo Clinic Proceedings 48(3): 207-210
Gamallo Amat, C.; Palacios Calvo, J.; Madero, R.; Galeano Díaz, F.; Martínez-Piñeiro, J.A.; Contreras Rubio, F. 1986: Dysplasia of the renal artery. Morphologic and morphometric study of 16 cases Archivos Espanoles de Urologia 39(3): 161-184
Cole, B.R.; Kaufman, R.L.; McAlister, W.H.; Kissane, J.M. 1976: Bilateral renal dysplasia in three siblings: report of a survivor Clinical Nephrology 5(2): 83-87
Vantrappen, G.; Feenstra, L.; Fryns, J.P. 2000: Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome Genetic Counseling 11(3): 273-276
Saglik, Y.; Atalar, H.; Yildiz, Y.; Basarir, K.; Erekul, S. 2007: Management of fibrous dysplasia. A report on 36 cases Acta Orthopaedica Belgica 73(1): 96-101
Kozlowski, K.; Eklöf, O. 1987: Werner mesomelic dysplasia. Report of two variant cases Journal Belge de Radiologie 70(4): 337-339
Kozlowksi, K.; Masel, J. 1983: Spondylo-epiphysealis dysplasia tarda (report of 7 cases) Australasian Radiology 27(3): 285-290
Corsi, A.; Boldrini, R.; Caione, P.; Bosman, C. 1995: Nodular renal blastoma in kidney with multicystic dysplasia. Report of a case Pathologica 87(2): 183-187
Hundley, J.D.; Wilson, F.C. 1973: Progessive diaphyseal dysplasia. Review of the literature and report of seven cases in one family Journal of Bone and Joint Surgery. American Volume 55(3): 461-474
Lanza, P.; Gemelli, R.; Spasari, A.; de Pasquale, M.; Ventrici, F.; Nistico, F. 1993: Cyst of seminal vesicle with ectopic ureter and ipsilateral renal dysplasia: case report Archivos Espanoles de Urologia 46(2): 159-161
Gambardella, A.; Ciccarelli, R.; Pepe, A.; Mosca, A. 1990: Familial metaphyseal dysplasia (Pyle's disease) versus craniometaphyseal dysplasia. Presentation of a case La Radiologia Medica 80(3): 360-363
Bartual Pastor, J.; Forteza Bover, G.; Báguena Candela, R.; Morera Martínez, H.; Sorní, G. 1968: Pyle's familial metaphyseal dysplasia; Jackson's craniometaphyseal dysplasia. Clinical, histological and genetic aspects Revista Espanola de Oto-Neuro-Oftalmologia y Neurocirugia 27(155): 1-10