Unilateral sclerocornea and tracheal stenosis: Unusual findings in a patient with goldenhar anomaly

Fetal and Pediatric Pathology

Volumn 30, Issue 6, 2011, Pages 397-404

  Furtado, Larissa V ^a   Putnam, Angelica R ^a   Viskochil, David H ^a   Lowichik, Amy ^a   Erickson, Lance K ^a   Dries, David C ^a   Opitz, John M ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Autopsy; Goldenhar; Oculoauricular vertebral anomaly; Sclerocornea; Tracheal stenosis

Indexed keywords

ARTICLE; AUTOPSY; BRONCHOSCOPY; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; ECHOGRAPHY; EYE MALFORMATION; FAMILY HISTORY; GOLDENHAR SYNDROME; HEMIFACIAL MICROSOMIA; HUMAN; HUMAN TISSUE; INFANT; MALE; MICROGNATHIA; MICROPHTHALMIA; MICROTIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SCLEROCORNEA; SCOLIOSIS; STOMACH FUNDOPLICATION; STOMACH TUBE; TRACHEA STENOSIS; TRACHEOSTOMY;

ABNORMALITIES, MULTIPLE; CORNEA; FATAL OUTCOME; GOLDENHAR SYNDROME; HUMANS; INFANT; MALE; TRACHEAL STENOSIS;

EID: 80755181369     PISSN: 15513815     EISSN: 15513823     Source Type: Journal    
DOI: 10.3109/15513815.2011.618870     Document Type: Article

References (25)

1. Opitz JM. Blastogenesis and the "primary feld" in human development. Birth Defects Orig Artic Ser 29:3-37, 1993. (Pubitemid 23334988)
2. Opitz JM, Zanini G, Reynolds JF, Jr, Gilbert-Barness E. Defects of blastogenesis. American Journal of Medical Genetics 115;269-286, 2002. (Pubitemid 36109680)
3. Goldenhar M. Associations malformatives de l'oeil et l'oreille, en particulier le syndrome der-moide épibulbaire-appendices auriculaires-fstula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1:243-282, 1952.
4. Grabb WC. Te frst and second branchial arch syndrome. Plastic and Reconstructive Surgery 36:485-508, 1965.
5. Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO. Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients. American Journal of Medical Genetics 26: 361-375, 1987. (Pubitemid 17225979)
6. Ala-Mello S, Siggberg L, Knuutila S, von Koskull H, Taskinen M, Peippo M. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. American Journal of Medical Genetics A 146:2490-2494, 2008.
7. Choong YF, Watts P, Little E, Beck L. Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? Journal of American Association for Pediatric Ophthalmology and Strabismus 7:226-227, 2003.
8. Hodes ME, Gleiser S, DeRosa GP, Yune HY, Girod DA, Weaver DD, Palmer GC. Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. Journal of Craniofacial Genetics and Developmental Biology 1:49-65, 1981.
9. Wilson GN, Barr M Jr. Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome. Journal of Craniofacial Genetics and Developmental Biology 3:313-314, 1983.
10. Digilio MC, McDonald-McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, Zackai EH. Tree patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. American Journal of Medical Genetics A 149;2860-2864, 2009.
11. Engiz O, Balci S, Unsal M, Ozer Z, Oguz KK, Aktas K. 31 cases with oculoauriculovertebral dyspla-sia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic fndings. Genetic Counseling 18:277-288, 2007.
12. Kobrynski L, Chitayat D, Zahed L, McGregor D, Rochon L, Brownstein S, Vekemans M, Albert DL. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence, 2007. American Journal of Medical Genetics 46:68-71, 1993. (Pubitemid 23103900)
13. Opitz JM, Faith GC. Visceral anomalies in an infant with Goldenhar syndrome. Birth Defects: Original Article Series V 2:104-105, 1969.
14. Sutphen R, Galan-Gomez E, Cortada X, Newkirk PN, Koussef BG. Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum. Clinical Genetics 48:66-71, 1995.
15. Downing GJ, Kilbride H. An interesting case presentation: pulmonary malformations associated with oculoauriculovertebral dysplasia (Goldenhar Anomalad). Journal of Perinatology 2:190-192, 1991.
16. Inglis AF Jr, Kokesh J, Siebert J, Richardson MA. Vertically fused tracheal cartilage. Archives of Oto-laryngology-Head & Neck Surgery 118:436-438, 1992.
17. Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ. Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. American Journal of Medical Genetics A 146: 904-905, 2008.
18. Kanai A, Wood TC, Polack FM, Kaufman HE. Te fne structure of sclerocornea. Investigative Ophthalmology 10(9):687-694, 1971.
19. Austin BA, Coulon C, Liu CY, Rao WW, Rada JA. Altered collagen fbril formation in the sclera of lumican-defcient mice. Investigative Ophthalmology & Visual Science 43:1695-1701, 2002. (Pubitemid 34587008)
20. Young RD, Quantock AJ, Sotozono C,Koizumi N, Kinoshita S. Sulphation patterns of keratan sulphate proteoglycan in sclerocornea resemble cornea rather than sclera. The British Journal of Ophthalmology 90:391-393, 2006. (Pubitemid 43325479)
21. Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH. Mutations in the human RAX homeobox gene in a patient with anophthalmia and scle-rocornea. Human Molecular Genetics 13:315-322, 2004. (Pubitemid 38196171)
22. Poswillo D. Te pathogenesis of the frst and second branchial arch syndrome. Oral Surgery 35:302-329, 1973.
23. Bowles DJ, Bodurtha J, Nance WE. Goldenhar complex in discordant monozygotic twins: A case report and review of the literature. American Journal of Medical Genetics 28;103-109, 1987. (Pubitemid 17153140)
24. Ryan CA, Finer NN, Ives E. Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly. American Journal of Medical Genetics 29: 755-761, 1988.
25. VeronaLL,DamianNG,Pavarina NP,Ferreira CH,MeloDG.Monozygotic twinsdiscordantforGold-enhar syndrome. J Pediatr (Rio J). 82: 75-78, 2006.