Hereditary bilateral conductive hearing loss caused by total loss of ossicles: A report of familial expansile osteolysis

Otology and Neurotology

Volumn 26, Issue 2, 2005, Pages 237-240

  Daneshi, Ahmad ^a   Shafeghati, Yousef ^b   Karimi Nejad, Mohammad Hassan ^c   Khosravi, Amir ^a   Farhang, Fariba ^d  

^a IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^c Karimi Nejad Pathology and Genetic Center   (Iran)

^d Hazrat Rasoul Akram Hospital ^*

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; HYDROXYPROLINE; MEDRONATE TECHNETIUM TC 99M;

ACOUSTIC REFLEX; ADOLESCENT; ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; AUDIOMETRY; AUDITORY OSSICLE; AUDITORY THRESHOLD; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; DISEASE SEVERITY; FAMILIAL EXPANSILE OSTEOLYSIS; FEMALE; HEARING LOSS; HUMAN; MALE; MIDDLE EAR RECONSTRUCTION; MIDDLE EAR SURGERY; OSTEOLYSIS; PEDIGREE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVIEW; SCHOOL CHILD; SYMPTOMATOLOGY; TEMPORAL BONE; TREATMENT OUTCOME; TYMPANOMETRY; WHOLE BODY SCINTISCANNING; X RAY;

ADOLESCENT; AUDIOMETRY, PURE-TONE; AUDITORY THRESHOLD; CARRIER PROTEINS; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 18; EAR OSSICLES; FEMALE; FOLLOW-UP STUDIES; GENES, DOMINANT; HEARING AIDS; HEARING LOSS, BILATERAL; HEARING LOSS, CONDUCTIVE; HEARING LOSS, MIXED CONDUCTIVE-SENSORINEURAL; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; OSSICULAR PROSTHESIS; OSTEITIS DEFORMANS; OSTEOLYSIS, ESSENTIAL; PEDIGREE; RANK LIGAND; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B;

EID: 15744368971     PISSN: 15317129     EISSN: None     Source Type: Journal    
DOI: 10.1097/00129492-200503000-00018     Document Type: Review

References (10)

1. Osterberg PH, Wallace RGH, Adams DA, et al. Familial expansile osteolysis: a new dysplasia. J Bone Joint Surg 1988;70:255-60.
2. Wallace RGH, Barr RJ, Osterberg PH, Mollan RAB. Familial expansile osteolysis. Clin Orthop Rel Res 1989;248:265-77.
3. Dickson GR, Shirodria PV, Kanis JA, et al. Familial expansile osteolysis: A morphological, histomorphometric and serological study. Bone 1991;12:331-8.
4. Adams DA, Gormley PK, Kerr AG, et al. Otologic manifestation of a new familial polyostetic bone disorder. J Laryngol Otol 1991;105:80-4.
5. Esselman GH, Goebel JA, Woppold FJ. Conductive hearing loss caused by hereditary incus necrosis: a study of familial expansile osteolysis. Otolaryngol Head Neck Surg 1996;114:634-41.
6. Oslen CB, Tangchaitrong K, Chippenda MA, et al. Tooth root resorption associated with a familial bone dysplasia affecting mother and daughter. Pediatr Dentistry 1999;21:363-7.
7. Mitchell CA, Kennedy JG, Owens PDA. Dental histology in familial expansile osteolysis. J Oral Pathol Med 1990;19:65-70.
8. Mitchell CA, Kennedy JG, Wallace RGH, et al. Dental abnormalities associated with familial expansile osteolysis: a clinical and radiographic study. Oral Pathol 1990;70:301-7.
9. Hughes AE, Ralston SH, Marken J, et al. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis. Nat Genet 2000;24:45-8.
10. Hughes AE, Shearman AM, Weber JL, et al. Genetic linkage of familial expansile osteolysis to chromosome 18q. Hum Mol Genet 1994;3:359-61.