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Japanese make-up with Hearing Loss
MM Patil, SS Kalyanshettar, SV Patil.
Department of Paediatrics, BLDE University`s Shri BM Patil Medical College Bijapur, Bijapur, Karnataka, India.
ADDRESS FOR CORRESPONDENCE
Dr MM Patil, Associate Professor, Department of Paediatrics, Shri BM Patil Medical College Bijapur 586103, Karnataka, India.
Email: mmp076@gmail.com
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What is the diagnosis?
Kabuki Make-Up syndrome. It is a multiple congenital anomaly , mental retardation syndrome. {1} It is currently known in the literature as Kabuki syndrome` the ‘make-up’ portion of the original name has been discarded secondary to concern that it might cause parental confusion or offense. {1} It is characterized by peculiar facial features like elongated palpebral fissures with eversion of the lateral third of the lower eyelid, arched and broad eyebrows resembling the makeup of actors in Kabuki, the traditional Japanese theatre. {2} It is also associated with mild to moderate intellectual disability. Otitis media and conductive hearing loss are some of the otolaryngologic findings reported in the western literature. {3} Other manifestations like dysmorphic pinnae, hearing loss and airway problems are also known. {3}
In Japan where it is more frequent, it affects 1 in 32000 newborns. Molecular genetic testing for MLL 2 the only gene in which mutation are known to cause Kabuki syndrome is available. {4, 5}
E-published: February 2013 Vol 10 Issue 2 Art # 9 |
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| Compliance with ethical standards |
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Funding: None
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Conflict of Interest: None
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- Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet 2004; 67: 209-219. [CrossRef] [PubMed]
- Kulkarni ML. Kabuki makeup syndrome. Indian Pediatr 2003; 40: 680. [PubMed]
- Peterson-Falzone SJ, Golabi M, Lalwani AK. Otolaryngologic manifestations of Kabuki syndrome. Int J Pediatr Otorhinolaryngol 1997; 38: 227-236. [CrossRef]
- Adam MP, Hudgins L, Hannibal M. Kabuki syndrome. Gene Reviews (Internet). Seattle(WA): University of Washington, Seattle; 1993-2011.
- Spano G, Campus G, Bortone A,L ai V, Luglie PF. Oral features in Kabuki makeup syndrome. Eur J Paediatr Dent 2008; 9: 149-152. [PubMed]
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DOI: https://doi.org/10.7199/ped.oncall.2013.9 |
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Cite this article as:
Patil M, Kalyanshettar S, Patil S. Japanese make-up with Hearing Loss. Pediatr Oncall J. 2013;10: 27-28. doi: 10.7199/ped.oncall.2013.9
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