Four systems involved with congenital abnormalities: A new type of syndromic hearing loss - ADOC Wang's syndrome?

Acta Oto-Laryngologica

Volumn 131, Issue 10, 2011, Pages 1117-1122

  Wang, Qiuju ^a   Zhao, Fei Fan ^a   Shi, Yong Bing ^b  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

choroideremia; congenital auricular organ dysplasia; Enamel hypoplasia; neural crest; patent ductus arteriosus; syndromic hereditary hearing impairment

Indexed keywords

ACOUSTIC REFLEX; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHOROIDEREMIA; CLINICAL FEATURE; CONDUCTION DEAFNESS; ENAMEL HYPOPLASIA; FEMALE; HEARING ACUITY; HEARING LOSS; HUMAN; INNER EAR MALFORMATION; MYRINGOTOMY; PATENT DUCTUS ARTERIOSUS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SPEECH DEVELOPMENT; STROKE; VISUAL ACUITY; WANG SYDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHOROIDEREMIA; DENTAL ENAMEL HYPOPLASIA; DUCTUS ARTERIOSUS, PATENT; EAR; FEMALE; HEARING LOSS; HUMANS;

EID: 80052541303     PISSN: 00016489     EISSN: 16512553     Source Type: Journal    
DOI: 10.3109/00016489.2011.589405     Document Type: Article

References (16)

1. Friedman TB, Schultz JM, Ben-Yosef T, Pryor SP, Lagziel A, Fisher RA, et al. Recent advances in the understanding of syndromic forms of hearing loss. Ear Hear 2003; 24:289-302. (Pubitemid 37022141)
2. http://www.ambrygen.com/clinical-diagnostic-and-carrier-testing/PDFforms/ Chromosomal-Microarray-Disorder-List.pdf
3. Christensen AE, Knappskog PM, Midtb M, Gjesdal CG, Mengel-From J, Morling N, et al. Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. Invest Ophthalmol Vis Sci 2010;51:47-52.
4. McGovern E, AL-Mudaffer M, McMahon C, Brosnahan D, Fleming P, Reardon W. Oculo-facio-cardio-dental syndrome in a mother and daughter. Int J Oral Maxillofac Surg 2006; 35:1060-2. (Pubitemid 44615434)
5. Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet 2009;17:1325-35.
6. Keynes R, Lumsden A. Segmentation and the origin of regional diversity in the vertebrate central nervous system. Neuron 1990;4:1-9. (Pubitemid 20149750)
7. Heimler A, Fox JE, Hershey JE, Crespi P. Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. Am J Med Genet 1991;39:192-5.
8. Thesleff I. The genetic basis of tooth development and dental defects. Am J Med Genet 2006;140:2530-5. (Pubitemid 44868119)
9. Huysseune A, Thesleff I. Continuous tooth replacement: the possible involvement of epithelial stem cells. Bioessays 2004; 26:665-71. (Pubitemid 38758344)
10. MacDonald IM, Sereda C, McTaggart K, Mah D. Choroideremia gene testing. Expert Rev Mol Diagn 2004;4:478-84. (Pubitemid 38915274)
11. Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, et al. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet 1989;45:530-40. (Pubitemid 19261440)
12. Brown CB, Baldwin HS. Neural crest contribution to the cardiovascular system. Adv Exp Med Biol 2006;589:134-54.
13. Vaughan CJ, Basson CT. Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. Am J Med Genet 2000;97:304-9. (Pubitemid 32463495)
14. Le Caignec C, Lefevre M, Schott JJ, Chaventre A, Gayet M, Calais C, et al. Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution inthe first epidermal-growth-factor-like domain of jagged 1.Am J Hum Genet 2002;71:180-6. (Pubitemid 34734721)
15. Forney WR, Robinson SJ, Pascoe DJ. Congenital heart disease, deafness, and skeletal malformations: a new syndrome? J Pediatr 1966;68:14-26.
16. Poloschek CM, Kloeckener-Gruissem B, Hansen LL,Bach M, Berger W. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Invest Ophthalmol Vis Sci 2008;49:4096-104.