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Neck Scarring, with Defects of Ears and Eyes

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Abstract

A lady and her sister presented with bilateral neck scarring, broad nasal root, deformed ears with preauricular pits, and small-sized squinted eyes with colobomas. Biopsy from the scarred skin showed atrophic skin, scarred dermis, and absent skin appendages. A high index of suspicion aided in diagnosing this rare genetic disorder.

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Bibliography

  1. Bennaceur S, Buisson T, Bertolus C, Couly G. Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus. Cleft Palate Craniofac J. 1998;35:454–9.

    Article  CAS  Google Scholar 

  2. El Darouti MA, Marzouk SA, Azzam OA, Nada HR, Sobhi RM, El Nabarawi I. Branchio-oculo-facial syndrome with bilateral linear scars of the neck. Int J Dermatol. 2005;44:674–6.

    Article  Google Scholar 

  3. Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, et al. New autosomal dominant branchio-oculo-facial syndrome. Am J Med Genet. 1987;27:943–51.

    Article  CAS  Google Scholar 

  4. Hall BD, deLorimier A, Foster LH. Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance. Am J Med Genet. 1983;14:135–8.

    Article  CAS  Google Scholar 

  5. Hiroshi F, Satoru S, Eisuke U, Kunihiro K, Yuhei Y. Bilateral dermal thymus of neck in branchio-oculo-facial syndrome. J Plast Reconstr Aesthet Surg. 2006;59:1385–7.

    Article  Google Scholar 

  6. Kapoor S, Kapur N. Branchio-oculo-facial syndrome with valvular pulmonic stenosis. Indian Pediatr. 2004;41:1180–1.

    PubMed  Google Scholar 

  7. Kulkarni ML, Deshmukh S, Kumar A, Kulkarni PM. Branchio-oculo-facial syndrome. Indian J Pediatr. 2005;72:701–3.

    Article  CAS  Google Scholar 

  8. Lee WK, Root AW, Fenske N. Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission. Am J Med Genet. 1982;11:345–52.

    Article  CAS  Google Scholar 

  9. Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, et al. Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet. 1995;56:42–59.

    Article  CAS  Google Scholar 

  10. Megarbane A, Hawat N, Chedid P, Bleik J, Delezoide AL. Branchio-oculo-facial syndrome associated with a white forelock. Clin Dysmorphol. 1998;7:221–3.

    Article  CAS  Google Scholar 

  11. Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, et al. TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet. 2008;82:1171–7.

    Article  CAS  Google Scholar 

  12. Ozturk O, Tokmak A, Demirci L, Silan F, Guclu E. Branchio-oculo-facial syndrome with the atresia of external ear. Int J Pediatr Otorhinolaryngol. 2005;69:1575–8.

    Article  Google Scholar 

  13. Park MY, Kim YC. A case of Branchio-oculo-facial syndrome. Ann Dermatol. 2009;21(3):288–90. https://doi.org/10.5021/ad.2009.21.3.288.

    Article  PubMed  PubMed Central  Google Scholar 

  14. Raveh E, Papsin BC, Forte V. Branchio-oculo-facial syndrome. Int J Pediatr Otorhinolaryngol. 2000;53:149–56.

    Article  CAS  Google Scholar 

  15. Rosa RF, Zen PR, Graziadio C, Paskulin GA. Branchio-oculo-facial syndrome (BOFS) and congenital heart defects. Arq Bras Cardiol. 2009;92:e6–8.

    Article  Google Scholar 

  16. Stoetzel C, Riehm S, Bennouna Greene V, Pelletier V, Vigneron J, Leheup B, Marion V, Helle S, Danse JM, Thibault C, Moulinier L, Veillon F, Dollfus H. Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. Am J Med Genet A. 2009;149A:2141–6.

    Article  CAS  Google Scholar 

  17. Su CS, O'Hagen SB, Sullivan TJ. Ocular anomalies in the branchio-oculo-facial syndrome. Aust N Z J Ophthalmol. 1998;26:43–6.

    CAS  PubMed  Google Scholar 

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El-Darouti, M.A., Al-Ali, F.M. (2019). Neck Scarring, with Defects of Ears and Eyes. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_1

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  • DOI: https://doi.org/10.1007/978-3-030-21855-3_1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-21854-6

  • Online ISBN: 978-3-030-21855-3

  • eBook Packages: MedicineMedicine (R0)

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