External ear abnormalities: Genetic and syndromic considerations;Anomalies de l'oreille externe: Aspects syndromiques et genetiques

Revue de Laryngologie Otologie Rhinologie

Volumn 118, Issue 1, 1997, Pages 5-10

  Lacombe, D ^a  

^a HÔPITAL PELLEGRIN   (France)

Author keywords

dysmorphology; external ear; genetics; microtia

Indexed keywords

CONFERENCE PAPER; GENE; HUMAN; MICROTIA; MOLECULAR GENETICS;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; EAR, EXTERNAL; HUMANS; SYNDROME;

EID: 0030991356     PISSN: 00351334     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (25)

1. BATTIN J. LACOMBE D. La dysmorphologie et la syndromologie : une activité de généticiens pédiatres (Editorial). ARCH PEDIATR. 1995;2:615-618
2. BLACK FO, MYERS EN, RORKE LB. Aplasia of the first and second branchial arches. ARCH OTOLARYNGOL. 1973;98:124.
3. CAREY JC. External ear. In Stevenson RE, Hall JG, Goodman RM. Human malformations and related anomalies, vol II. Oxford University Press, New York, 1993
4. COHEN MS, SAMANGO-SPROUSE CA. STERN HJ. CUSTER DA, VAUGHT DR, SAAL HM, TIFFT CJ, ROSENBAUM KN. Neurodevelopmental profile of infants and toddlers with oculoauriculo-vertebral spectrum and the correlation of prognosis with physical findings. AM J MED GENET. 1995,60:535-540
5. GOLDENHAR M Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoide épibulbaire - appendices auriculaires - fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J GÉNÉT HUM. 1952;1:243-282
6. GORLIN RJ, COHEN MM, LEVIN LS. Syndromes of the head and neck. Ed. 3. Oxford University Press, New York 1990.
7. GORLIN RJ, TORIELLO HV, COHEN MM. Hereditary hearing loss and its syndromes. Oxford University Press, New York. 1995.
8. HALL JG. FROSTER-ISKENIUS UG. ALLANSON JE. Handbook of normal physical measurements OXFORD UNIVERSITY PRESS, OXFORD. 1989.
9. JOHNSON JP, POSKANZER LS, SHERMAN S. Three-generation family with ressemblance to Townes-Brocks syndrome and Goldenhar/Oculo-auriculo-vertebral spectrum. AM J MED GENET. 1996;61:134-139
10. KANKKUNEN A. THIRINGER K. Hearing impairment in connection with preauricular tags ACTA PAEDIATR SCAND. 1987;76:143-146.
11. KAYE CI, MARTIN AO, ROLLNICK BR, NAGATOSHI K, ISRAEL J, HERMANOFF M, TROPEA B. RICHTSMEIER JT, MORTON NE. Oculo-auriculo-vertebral anomaly : segregation analysis. AM J MED GENET 1992;43:913-917.
12. KINGSLEY DM, BLAND AE, GRUBBER JM, MARKER PC, RUSSELL LB, COPELAND NG, JENKINS NA. The mouse shor ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF-* superfamily. CELL. 1992;71.399-410.
13. LACOMBE D, BATTIN J Germinal mosaicism in oculo-auriculo-vertebral dysplasia ? AM J MED GENET. 1993;46:609-610.
14. LACOMBE D, TOUTAIN A, GORLIN RJ, OLEY CA. BATTIN J. Clinical identification of a human equivalent to the short ear (se) murine phenotype ANN GÉNET. 1994;37:184-191.
15. LACOMBE D Clinical dysmorphology beyond developmental genetics : Recent advances in some human developmental genes (Review). ANN GENET. 1995;38:137-144.
16. MELNICK M, MYRIANTHOPOULOUS NC. External ear malformations : Epidemiology, genetics, and natural history. Birth Defects Original Article Series XV (9). The National Foundation-March of Dimes. Alan R. Liss, New York, 1979.
17. MEURMAN Y. Congenital microtia and meatal atresia. ARCH OTOLARYNGOL. 1957;66:443-463.
18. OPITZ JM. Blastogenesis and the "primary field" in human development. Birth Defects : Original Article Series, XXIX (1) : 3-37. John Wiley & Sons, New York, 1993.
19. PATON A, PAHOR AI, GRAHAM GR. Looking for Mozart ears. BR MED J. 1986;293:1622-1624
20. ROLLNICK BR, KAYE CI, NAGATOSHI K, HANCK W, MARTIN AO. Oculo-auriculo-vertebral dysplasia and variants : Phenotypic characteristics of 294 patients. AM J MED GENET. 1987;26:361-375.
21. SERVILLE F, LACOMBE D, SAURA R, BILLEAUD C, SERGENT MP. Townes-Brocks syndrome in an infant with translocation t (5,16) GENET COUNSEL. 1993, 4 : 109-112.
22. The Treacher Collins syndrome collaborative group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. NATURE GENET. 1996;9:130-136.
23. VAN METER TD, WEAVER DD. Oculo-auriculo-vertebral spectrum and the CHARGE association : clinical evidence for a common pathogenetic mechanism. CLIN DYSMORPHOL. 1996;5.187-196.
24. VINCENT C, KALATZIS V, COMPAIN S, LEVILLIERS J, SLIM R. GRAIA F, DE LURDES PEREIRA M. NIVELON A. CROQUETTE MF, LACOMBE D, VIGNERON J, HELIAS J, BROYER M, CALLEN DF, HAAN EA, WEISSENBACH J, LACROIX B. BELLANÉ-CHANTELOT C. LE PASLIER D, COHEN D, PETIT C A proposed new contiguous gene syndrome on 8q consists of Branchio-oto-renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia : implications for the mapping of the BOR gene. HUM MOL GENET. 1994;3:1859-1866.
25. WINTER RM. Recent molecular advances in dysmorphology (Review). HUM MOL GENET. 1995;4:1699-1704.