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1983 1
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Page 1
Analysis between phenotypes and genotypes of inner ear malformation.
Wang S, Ding W, Chen C, Xu B, Liu X, Bian P, Guo Y. Wang S, et al. Acta Otolaryngol. 2019 Mar;139(3):223-232. doi: 10.1080/00016489.2018.1554262. Epub 2019 Feb 14. Acta Otolaryngol. 2019. PMID: 30762457 Review.
METHODS: Sixty EVA patients were tested by audiometry, temporal bone high-resolution CT and inner ear MRI. SNPscan technology were carried out after the patients signed informed consent. ...
METHODS: Sixty EVA patients were tested by audiometry, temporal bone high-resolution CT and inner ear MRI. SNPscan technology were ca …
Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.
Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C. Chanclud J, et al. Pediatr Radiol. 2023 Mar;53(3):461-469. doi: 10.1007/s00247-022-05531-3. Epub 2022 Oct 24. Pediatr Radiol. 2023. PMID: 36274068
Psychomotor development was normal in 14 children. One child (with an inner ear malformation) showed a slight delay in walking and language acquisition. ...
Psychomotor development was normal in 14 children. One child (with an inner ear malformation) showed a slight delay in walking …
A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S, Qin M, Mao S, Mei L, Cai X, Feng Y, He C, Song J. Li S, et al. BMC Med Genomics. 2022 Nov 3;15(1):230. doi: 10.1186/s12920-022-01379-6. BMC Med Genomics. 2022. PMID: 36329483 Free PMC article.
Two probands with SOX10 mutations developed progressive changes in iris color with age, returning from pale blue at birth to normal tan. Additionally, one proband had a renal malformation (horseshoe kidneys).All cases were first described as WS cases. Congenital inner e …
Two probands with SOX10 mutations developed progressive changes in iris color with age, returning from pale blue at birth to normal tan. Add …
Cochlear implants: selection criteria and shifting borders.
Lenarz T. Lenarz T. Acta Otorhinolaryngol Belg. 1998;52(3):183-99. Acta Otorhinolaryngol Belg. 1998. PMID: 9810453 Review.
The same holds true for children. Cochlear implantation in obliterated cochleae and inner ear malformation requires a special surgical technique and special electrode arrays. ...
The same holds true for children. Cochlear implantation in obliterated cochleae and inner ear malformation requires a special …
Analysis of the curative effect of a domestic ear orthosis system in the treatment of congenital auricle deformity.
Wang K, Li X, Jiang H, Yu R. Wang K, et al. Am J Otolaryngol. 2022 May-Jun;43(3):103205. doi: 10.1016/j.amjoto.2021.103205. Epub 2021 Sep 9. Am J Otolaryngol. 2022. PMID: 35279284
OBJECTIVE: To evaluate the therapeutic effect and determinants of jingle ear orthosis in the correction of infant ear malformation and to evaluate its clinical application value. ...CONCLUSIONS: Domestic auricle orthosis is an effective nonsurgical tre …
OBJECTIVE: To evaluate the therapeutic effect and determinants of jingle ear orthosis in the correction of infant ear …
Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study.
Sato R, Yoshimura H, Kosho T, Takumi Y. Sato R, et al. Am J Med Genet A. 2024 Apr;194(4):e63492. doi: 10.1002/ajmg.a.63492. Epub 2023 Dec 7. Am J Med Genet A. 2024. PMID: 38062644
Trisomy 18 is a common chromosomal aberration syndrome, characterized by variable clinical manifestations, including cardiovascular, pulmonary, genitourinary, and musculoskeletal findings, leading to a shorter survival and severe developmental delay in survivors. However, recentl …
Trisomy 18 is a common chromosomal aberration syndrome, characterized by variable clinical manifestations, including cardiovascular, pulmona …
Transcanal Endoscopic Management of Cerebrospinal Fluid Otorrhea Secondary to Congenital Inner Ear Malformations.
Kou YF, Zhu VF, Kutz JW Jr, Mitchell RB, Isaacson B. Kou YF, et al. Otol Neurotol. 2016 Jan;37(1):62-5. doi: 10.1097/MAO.0000000000000898. Otol Neurotol. 2016. PMID: 26571412
MAIN OUTCOME MEASURE: Cessation of cerebrospinal fluid leakage from the inner ear to the middle ear. RESULTS: An otic capsule malformation with a modiolar defect as well as a defect in the stapes footplate was noted in both patients. ...One patient developed …
MAIN OUTCOME MEASURE: Cessation of cerebrospinal fluid leakage from the inner ear to the middle ear. RESULTS: An otic capsule …
Phenotype and genotype in females with POU3F4 mutations.
Marlin S, Moizard MP, David A, Chaissang N, Raynaud M, Jonard L, Feldmann D, Loundon N, Denoyelle F, Toutain A. Marlin S, et al. Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x. Clin Genet. 2009. PMID: 19930154
In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset heari …
In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic i …
Genotype-phenotype associations in microtia: a systematic review.
Wahdini SI, Idamatussilmi F, Pramanasari R, Prawoto AN, Wungu CDK, Putri IL, Gunadi. Wahdini SI, et al. Orphanet J Rare Dis. 2024 Apr 9;19(1):152. doi: 10.1186/s13023-024-03142-9. Orphanet J Rare Dis. 2024. PMID: 38594752 Free PMC article.
BACKGROUND: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. ...RESULT: The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck …
BACKGROUND: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. ...RESULT: …
Management of congenital ear malformations.
Glasscock ME 3rd, Schwaber MK, Nissen AJ, Jackson CG. Glasscock ME 3rd, et al. Ann Otol Rhinol Laryngol. 1983 Sep-Oct;92(5 Pt 1):504-9. doi: 10.1177/000348948309200519. Ann Otol Rhinol Laryngol. 1983. PMID: 6625450
In spite of modern diagnostic and surgical techniques, the results of congenital ear malformation surgery are often disappointing. Not only are hearing results less than expected, but also postoperative canal stenosis is a significant problem. This paper reviews the …
In spite of modern diagnostic and surgical techniques, the results of congenital ear malformation surgery are often disappoint …
11 results