Middle and inner ear malformations in velocardiofacial syndrome [9]

American Journal of Medical Genetics

Volumn 131 A, Issue 2, 2004, Pages 225-226

  Devriendt, Koenraad ^a   Swillen, Ann ^a   Schatteman, Isabelle ^b   Lemmerling, Marc ^c   Dhooge, Ingeborg ^d  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b ENT Clinic   (Belgium)

^c AZ St Augustinus ^*  (Belgium)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AUDIOLOGY; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; HEARING AID; HEARING LOSS; HUMAN; INNER EAR MALFORMATION; INTELLIGENCE QUOTIENT; LETTER; MIDDLE EAR MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALATOPHARYNGEAL INCOMPETENCE; PHARYNX RECONSTRUCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; CRANIOFACIAL ABNORMALITIES; EAR, INNER; EAR, MIDDLE; FEMALE; HEARING LOSS; HEART DEFECTS, CONGENITAL; HUMANS; SYNDROME;

EID: 9644281803     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30326     Document Type: Letter

References (3)

1. Cunningham ML, Perry RJ, Eby PR, Gibson RL, Opheim KE, Manning SC. 2003. Primary pulmonary dysgenesis in velocardiofacial syndrome: A second patient. Am J Med Genet 30(121A):177-179.
2. Van der Meulen BF, Smrkovsky M. 1985. Mc Carthy ontwikkelingsschalen. Lisse: Swets & Zeilinger.
3. Vitelli F, Viola A, Morishima M, Pramparo T, Baldini A, Lindsay E. 2003. TBX1 is required for inner ear morphogenesis. Hum Mol Genet 12:2041-2048.