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Quoted phrase not found in phrase index: "Aplasia/Hypoplasia of the ear"
Page 1
Developmental unilateral facial palsy in a newborn: six cases and literature review.
Decraene L, Boudewyns A, Venstermans C, Ceulemans B. Decraene L, et al. Eur J Pediatr. 2020 Mar;179(3):367-375. doi: 10.1007/s00431-019-03484-8. Epub 2020 Jan 27. Eur J Pediatr. 2020. PMID: 31989259 Review.
We report six patients, three boys and three girls, who presented with a unilateral facial palsy at birth. Clinical assessment was performed by an ear-nose-throat (ENT) surgeon, a pediatric neurologist, and an ophthalmologist. ...However in rare cases it can be development …
We report six patients, three boys and three girls, who presented with a unilateral facial palsy at birth. Clinical assessment was performed …
Radiological Imaging Findings of Patients with Congenital Totally Hearing Loss.
Dağkıran M, Dağkıran N, Sürmelioğlu Ö, Ballı T, Tuncer Ü, Akgül E, Çetik F. Dağkıran M, et al. J Int Adv Otol. 2016 Apr;12(1):43-8. doi: 10.5152/iao.2015.1450. J Int Adv Otol. 2016. PMID: 27340982 Free article.
Dilatation of the internal acoustic canal was found in 42 ears (30.9%); also, 21 ears with cochlear nerve aplasia/hypoplasia (15.4%), 5 ears with internal acoustic canal aplasia, and 1 ear with internal acoustic canal hypoplasia (0.73%) were detected. There w …
Dilatation of the internal acoustic canal was found in 42 ears (30.9%); also, 21 ears with cochlear nerve aplasia/hypoplasia ( …
Ratio of Vestibular Endolymph in Patients with Isolated Lateral Semicircular Canal Dysplasia.
Naganawa S, Kawai H, Sone M, Ikeda M. Naganawa S, et al. Magn Reson Med Sci. 2015;14(3):203-10. doi: 10.2463/mrms.2014-0112. Epub 2015 Mar 31. Magn Reson Med Sci. 2015. PMID: 25833266 Free article.
PURPOSE: Isolated vestibular-lateral semicircular canal dysplasia (LSCCD) is one of the most common anomalies of the inner ear. However, endolymphatic size in LSCCD is unknown. We measured the size of the endolymph in the vestibule of patients with LSCCD and compared it wi …
PURPOSE: Isolated vestibular-lateral semicircular canal dysplasia (LSCCD) is one of the most common anomalies of the inner ear. Howev …
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28. Am J Med Genet A. 2012. PMID: 23023959
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently, mutations in the ORC1, ORC4, ORC6, CDT1, and CDC6 genes, encoding components of the pre-replication complex, …
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia …
Bimodal stimulation in children with inner ear malformation: One side cochlear implant and contralateral auditory brainstem implant.
Batuk MO, Cinar BC, Yarali M, Aslan F, Ozkan HB, Sennaroglu G, Yucel E, Bajin MD, Bilginer B, Sennaroglu L. Batuk MO, et al. Clin Otolaryngol. 2020 Mar;45(2):231-238. doi: 10.1111/coa.13499. Epub 2020 Jan 22. Clin Otolaryngol. 2020. PMID: 31854074
OBJECTIVE: To determine audiological outcomes of children who use a cochlear implant (CI) in one ear and an auditory brainstem implant (ABI) in the contralateral ear. ...PARTICIPANTS: Twelve children followed with CI and contralateral auditory brainstem implant (ABI …
OBJECTIVE: To determine audiological outcomes of children who use a cochlear implant (CI) in one ear and an auditory brainstem implan …
Meier-Gorlin syndrome: report of eight additional cases and review.
Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV. Bongers EM, et al. Am J Med Genet. 2001 Aug 1;102(2):115-24. doi: 10.1002/ajmg.1452. Am J Med Genet. 2001. PMID: 11477602 Review.
The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, characterized by the association of bilateral microtia, aplasia/hypoplasia of the patellae, and severe pre- and postnatal growth retardation …
The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, characterized …
Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.
Bernardi P, Graziadio C, Rosa RF, Dall'Agnol L, Zen PR, Paskulin GA. Bernardi P, et al. Am J Med Genet A. 2009 Jul;149A(7):1532-8. doi: 10.1002/ajmg.a.32943. Am J Med Genet A. 2009. PMID: 19533791
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents the ninth reported case and only the second case involving a female. ...
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents …
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333897 Free PMC article.
Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle pro …
Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and sho …
A Challenge for Cochlear Implantation: Duplicated Internal Auditory Canal.
Binnetoğlu A, Bağlam T, Sarı M, Gündoğdu Y, Batman Ç. Binnetoğlu A, et al. J Int Adv Otol. 2016 Aug;12(2):199-201. doi: 10.5152/iao.2016.1440. J Int Adv Otol. 2016. PMID: 27716607 Free article.
Duplication of the internal auditory canal is an uncommon, congenital malformation that can be associated with sensorineural hearing loss owing to aplasia/hypoplasia of the vestibulocochlear nerve. Only 14 such cases have been reported to date. ...
Duplication of the internal auditory canal is an uncommon, congenital malformation that can be associated with sensorineural hearing loss ow …