Pontine tegmental cap dysplasia: The neurotologic perspective

Otolaryngology - Head and Neck Surgery

Volumn 145, Issue 6, 2011, Pages 992-998

  Desai, Nilesh K ^a   Young, Lindsay ^b   Miranda, Mario A ^c   Kutz Jr , Joe Walter ^b   Roland, Peter S ^b   Booth, Timothy N ^b  

^a CHILDREN'S HEALTHCARE OF ATLANTA   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c UNIVERSIDAD DE PANAMÁ   (Panama)

Author keywords

Cochlear implant; Duplicated internal auditory canal; Molar tooth; Pontine tegmental cap dysplasia; PTCD

Indexed keywords

ADOLESCENT; ARTICLE; ATAXIA; ATTENTION DEFICIT DISORDER; AUDITORY RESPONSE; BONE SCINTISCANNING; BRAIN SCINTISCANNING; CASE REPORT; CHILD; CONGENITAL MALFORMATION; CONGENITAL NYSTAGMUS; CORNEA TRANSPLANTATION; CORNEA ULCER; CRANIAL NERVE; DEVELOPMENTAL DISORDER; EPILEPSY; FACIAL NERVE; FEEDING DISORDER; FEMALE; HEMANGIOMA; HUMAN; IMPLANTATION; INGUINAL HERNIA; INNER EAR; INNER EAR MALFORMATION; INTERNAL AUDITORY CANAL; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PONTINE TEGMENTAL CAP DYSPLASIA; RETROSPECTIVE STUDY; SCHOOL CHILD; SCOLIOSIS; SPEECH DISORDER; TEMPORAL BONE; VESTIBULAR EVOKED MYOGENIC POTENTIAL; VESTIBULOCOCHLEAR NERVE; VISUAL IMPAIRMENT; AUDIOMETRY; BRAIN STEM; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAPHY; EPIDEMIOLOGY; INFANT; METHODOLOGY; NERVOUS SYSTEM MALFORMATION; PONS; PROGNOSIS; RARE DISEASE; SYNDROME; VESTIBULAR NERVE;

AUDIOMETRY; BRAIN STEM; CHILD; COCHLEAR IMPLANTATION; ELECTROENCEPHALOGRAPHY; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM MALFORMATIONS; PONS; PROGNOSIS; RARE DISEASES; RETROSPECTIVE STUDIES; SAMPLING STUDIES; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED; VESTIBULAR NERVE;

EID: 84856068323     PISSN: 01945998     EISSN: 10976817     Source Type: Journal    
DOI: 10.1177/0194599811412729     Document Type: Article

References (16)

1. Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Ann Neurol. 2007;62(6):625-639.
2. Barth PG, Majoie CB, Caan MW, et al. Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain. 2007;130(pt 9):2258-2266. (Pubitemid 47327643)
3. Pedraza S, Gámez J, Rovira A, et al. MRI findings in Möbius syndrome: correlation with clinical features. Neurology. 2000;55(7):1058-1060.
4. Barth PG. Pontocerebellar hypoplasia: how many types? Eur J Paediatr Neurol. 2000;4(4):161-162. (Pubitemid 30604754)
5. Chaves-Vischer V, Pizzolato GP, Hanquinet S, Maret A, Bottani A, Haenggeli CA. Early fatal pontocerebellar hypoplasia in premature twin sisters. Eur J Paediatr Neurol. 2000;4(4):171-176. (Pubitemid 30604757)
6. Sztriha L, Al-Gazali LI, Aithala GR, Nork M. Joubert's syndrome: new cases and review of clinicopathologic correlation. Pediatr Neurol. 1999;20(4):274-281. (Pubitemid 29203438)
7. Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet. 1992;43(4):726-731.
8. Macferran KM, Buchmann RF, Ramakrishnaiah R, et al. Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain. Semin Pediatr Neurol. 2010;17(1):69-74.
9. Rauscher C, Poretti A, Neuhann TM, et al. Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. Neuropediatrics. 2009;40(1):43-46.
10. Maeoka Y, Yamamoto T, Ohtani K, Takeshita K. Pontine hypoplasia in a child with sensorineural deafness. Brain Dev. 1997;19(6):436-439. (Pubitemid 27443261)
11. Ouanounou S, Saigal G, Birchansky S. Möbius syndrome. AJNR Am J Neuroradiol. 2005;26(2):430-432.
12. Gasser RF. The development of the facial nerve in man. Ann Otol Rhinol Laryngol. 1967;76(1):37-56. No abstract available.
13. Yates JA, Patel PC, Millman B, Gibson WS. Isolated congenital internal auditory canal atresia with normal facial nerve function [review]. Int J Pediatr Otorhinolaryngol. 1997;41(1):1-8. (Pubitemid 27337965)
14. Jissendi-Tchofo P, Doherty D, McGillivray G, et al. Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. AJNR Am J Neuroradiol. 2009;30(1):113-119.
15. Walton J, Gibson WP, Sanli H, Prelog K. Predicting cochlear implant outcomes in children with auditory neuropathy. Otol Neurotol. 2008;29(3):302-309. (Pubitemid 351450808)
16. Kang WS, Lee JH, Lee HN, Lee KS. Cochlear implantations in young children with cochlear nerve deficiency diagnosed by MRI. Otolaryngol Head Neck Surg. 2010;143(1):101-108.