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Oral features in Kabuki make-up syndrome

Spano, Giovanni and Campus, Guglielmo Giuseppe and Bortone, Antonella and Lai, V. and Lugliè, Pietrina Francesca (2008) Oral features in Kabuki make-up syndrome. European Journal of Paediatric Dentistry, Vol. 9 (3), p. 149-152. eISSN 2035-648X. Article.

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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.

Item Type:Article
ID Code:7496
Status:Published
Refereed:Yes
Uncontrolled Keywords:Kabuki syndrome, oral features, tooth anomalies
Subjects:Area 06 - Scienze mediche > MED/28 Malattie odontostomatologiche
Divisions:001 Università di Sassari > 03 Istituti > Clinica odontoiatrica
001 Università di Sassari > 01 Dipartimenti > Chirurgia, microchirurgia e specialità medico-chirurgiche
Publisher:Italian Society of Paediatric Dentistry / Ariesdue
eISSN:2035-648X
Deposited On:04 May 2012 11:02

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