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Oral features in Kabuki make-up Syndrome.
Eur J Paediatr Dent. 2008 Sep; 9(3):149-52.EJ

Abstract

AIM

Kabuki make-up Syndrome is so named because of the characteristic facies of the affected patient. The face is similar to a Kabuki actor's mask. The main aim of this report was to describe the oral features in Kabuki Syndrome, focusing on the tooth anomalies.

PATIENTS AND METHODS

Five subjects with Kabuki Syndrome, identified by the Child Neuropsychiatric Clinic of the University of Sassari, Italy, were enrolled. Their medical records were reviewed and oral and dental examinations were completed. The diagnosis was based upon the typical pattern of malformations and dysmorphic features reviewed by Matsumoto and Niikawa.

RESULTS

All patients showed typical characteristics of the Syndrome such as a long palpebral fissure, lower palpebral eversion, arched eyebrows, short nasal septum, prominent and large ears, fingertip pads, mental retardation, and paramedian elevation of the lower lip.

CONCLUSION

Kabuki make-up Syndrome is of unknown origin but a genetic aetiopathogenesis has been proposed. It is extremely rare; in Japan, where it is most frequent, it affects 1:32000 newborns. The typical facies of the syndrome, combined with general medical and dental examinations, are very important for diagnosis confirmation.

Authors+Show Affiliations

Dental Institute, University of Sassari, Sassari, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18844445

Citation

Spano, G, et al. "Oral Features in Kabuki Make-up Syndrome." European Journal of Paediatric Dentistry, vol. 9, no. 3, 2008, pp. 149-52.
Spano G, Campus G, Bortone A, et al. Oral features in Kabuki make-up Syndrome. Eur J Paediatr Dent. 2008;9(3):149-52.
Spano, G., Campus, G., Bortone, A., Lai, V., & Lugliè, P. F. (2008). Oral features in Kabuki make-up Syndrome. European Journal of Paediatric Dentistry, 9(3), 149-52.
Spano G, et al. Oral Features in Kabuki Make-up Syndrome. Eur J Paediatr Dent. 2008;9(3):149-52. PubMed PMID: 18844445.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oral features in Kabuki make-up Syndrome. AU - Spano,G, AU - Campus,G, AU - Bortone,A, AU - Lai,V, AU - Lugliè,P F, PY - 2008/10/11/pubmed PY - 2008/11/19/medline PY - 2008/10/11/entrez SP - 149 EP - 52 JF - European journal of paediatric dentistry JO - Eur J Paediatr Dent VL - 9 IS - 3 N2 - AIM: Kabuki make-up Syndrome is so named because of the characteristic facies of the affected patient. The face is similar to a Kabuki actor's mask. The main aim of this report was to describe the oral features in Kabuki Syndrome, focusing on the tooth anomalies. PATIENTS AND METHODS: Five subjects with Kabuki Syndrome, identified by the Child Neuropsychiatric Clinic of the University of Sassari, Italy, were enrolled. Their medical records were reviewed and oral and dental examinations were completed. The diagnosis was based upon the typical pattern of malformations and dysmorphic features reviewed by Matsumoto and Niikawa. RESULTS: All patients showed typical characteristics of the Syndrome such as a long palpebral fissure, lower palpebral eversion, arched eyebrows, short nasal septum, prominent and large ears, fingertip pads, mental retardation, and paramedian elevation of the lower lip. CONCLUSION: Kabuki make-up Syndrome is of unknown origin but a genetic aetiopathogenesis has been proposed. It is extremely rare; in Japan, where it is most frequent, it affects 1:32000 newborns. The typical facies of the syndrome, combined with general medical and dental examinations, are very important for diagnosis confirmation. SN - 1591-996X UR - https://www.unboundmedicine.com/medline/citation/18844445/Oral_features_in_Kabuki_make_up_Syndrome_ L2 - http://www.diseaseinfosearch.org/result/3945 DB - PRIME DP - Unbound Medicine ER -