Oral features in Kabuki make-up

Syndrome
G. SPANO, G. CAMPUS, A. BORTONE, V. LAI, P.F. LUGLIÈ

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.

KEYWORDS: Kabuki make up Syndrome; Oral features; Hypodontia; Ogival palate.

Introduction brachydactyly V.
Kabuki make-up Syndrome is so named because of 3. Dermatoglyphic anomalies (fingertip pads, absence
the characteristic facies of the affected patient. The face of digital triradius c and/or d, and increased digital
is similar to a Kabuki actor’s mask, which was ulnar loop and hypothenar loop patterns) were
traditionally used in the Japanese theatre during the Edo described in 93% of the patients.
period (1603-1867). This syndrome is a multiple 4. A growth deficit was observed in most of the
congenital anomaly/mental retardation syndrome that patients (83%) with normal birth and normal weight
was first described simultaneously by two groups in at birth.
Japan [Niikawa et al., 1981; Kuroki et al., 1981]. The 5. Cardiac anomalies were observed in one third of the
authors reported a group of patients who showed examined cases.
characteristic facial features, skeletal anomalies, Similar features have also been described in other
dermatoglyphic abnormalities, short stature and mental studies, not carried out in Japan, as this syndrome is
retardation. The frequency is about 1:32000 in Japan more common than originally supposed [Braun and
[Niikawa et al., 1988]. In 1988, 62 cases were Schmid, 1984; PeBenito and Ferretti, 1989; Gillis et
described, 58 from Japan. Based on the findings in al., 1990; Philip et al., 1992; Burke and Jones, 1995;
these patients, the following five cardinal Ilyina et al., 1995; Ho and Eaves, 1997; Kokitsu-
manifestations were defined [Niikawa et al., 1988]. Nakata et al., 1999; Courtens et al., 2000]. A recent
1. All patients exhibited the characteristic facies, with report [White et al., 2004] estimates a frequency rate of
eversion of the lower eyelids to the bottom, curved 1:86000 in Australia and New Zealand. However, the
eyebrow, flat nose and prominent ears. real frequency of the syndrome is under scrutiny and it
2. In 92% of the examined sample, skeletal anomalies is probably similar to that observed in Japan [Adam
were recorded such as a deformed spinal column and Hudgins, 2005].
with or without sagittal cleft vertebrae and Several studies have described the main oral
characteristics of Kabuki Syndrome. Common
manifestations are ogival palate, labio-palatal cleft,
Dental Institute, University of Sassari, Sassari, Italy dental form anomalies, and hypodontia ranging 2.8% -
E-mail: giove67@yahoo.it 7.4% in the permanent dentition, less frequent in the
deciduous dentition [Balmer et al., 2001; Matsumoto

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G. SPAN O ET AL.

and Niikawa, 2003]. No gender difference was anomalies such as conoid teeth and agenesis were also
observed, but an aetiopathogenic hypothesis has linked recorded. Occlusion status was classified following
transmission of the syndrome to the X chromosome IOTN grading.
[Niikawa et al., 1988; Li et al., 1996].
The most widely-accepted aetiopathological
hypothesis postulates a hereditary pathological Clinical reports
syndrome with dominant autosomal transmission, in Patient 1
which each new case is a new mutation [Niikawa et al., A girl born in 1998 after a normal term pregnancy
1988]. and normal delivery with a birth weight of 2900 g.
There are no published data about the prevalence of Impaired growth was observed at three months.
the syndrome in Italy; the aim of this report is to Impaired psychomotor development was detected at
describe the oral features in Kabuki Syndrome, the age of 23 months. A moderately severe heart defect
focusing on the tooth anomalies. was diagnosed at 25 months. The girl attends a special-
needs school. Dental anomalies of 31 and 41
(hypoplasia), agenesia of 12, 22, 25, 32, 35, 45. The
Patients and methods maxilla was retrognathic. Several caries lesions were
Clinical evaluation noted. Anterior cross-bite and ogival palate.
Five individuals (Fig. 1) with Kabuki Syndrome,
identified by the Child Neuropsychiatric Clinic of the Patient 2
University of Sassari, Italy, agreed to participate in the A girl born in 1992 at the 38th week with normal
study. No similar signs were observed in any of the delivery and a birth weight of 2750 g, after a pregnancy
families of the patients, indicating sporadic occurrence. with continuous risk of miscarriage. Psychomotor
Medical records were reviewed and oral and dental development was delayed. The girl attends a special-
examinations were performed. The diagnosis was needs school. Dental anomalies of 11 and 21 with a flat
based upon the typical pattern of malformations and screwdriver-like crown, with white spots and
dysmorphic features (Table 1) [Matsumoto and hypoplasia; the upper left second incisor showed a
Niikawa, 2003]. conical shaped crown; agenesia of 12, 14, 31, 41.
Dental examinations were carried out under standard Several caries lesions observed. Bilateral cross-bite and
conditions with plane mirror and dental probe. Dental ogival palate.

FIG. 1 - Frontal photograph of patients with the typical features of Kabuki Syndrome.

Pa tient Sex Age Fa cies Sk eleta l M enta l Grow th Ca rdia c

Anoma lies Reta rda tion Deficit Anoma lies

1 F 9y yes yes yes yes yes

2 F 15 y yes yes yes yes nno
3 M 13 y yes yes yes yes no
4 M 21 y yes yes yes yes yes
5 F 16 y yes yes yes yes no

TABLE 1 - Vital statistics (age and gender) and main features of the five patients.

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 FIVE CASE REPORTS OF KABUKI SYN DROM E

Patient 3 and normal delivery, birth weight 3800 g. Growth

A boy born in 1994 at the 33th week with caesarean deficiency was diagnosed at 3 years of age. Impaired
delivery and a birth weight of 1450 g, after a psychomotor development was detected at 45 months.
pregnancy with continuous risk of miscarriage. At The girl attends a special-needs school. Enamel
birth the patient was reanimated. Impaired growth was hypoplasia of 11 and 21 was observed. Several caries
observed at three months. Impaired psychomotor lesions observed. Anterior cross-bite and ogival palate.
development was detected at 36 months. Dental
anomalies of 11 and 21, agenesia of 12, 22, 31, 42, 44.
Several caries lesions observed. Left lateral cross-bite Discussion
and ogival palate (fig. 2). The aim of this investigation was to describe the
main oral and dental features in patients with Kabuki
Patient 4 Syndrome. This is a multiple malformation/mental
A boy born in 1986 after a normal term pregnancy retardation syndrome characterised by distinctive facial
and normal delivery with a birth weight of 3480 g. features (eversion of the lower lateral eyelid, arched
Growth deficiency was observed at six months. eyebrows with the lateral one-third dispersed or sparse,
Impaired psychomotor development was detected at 11 depressed nasal tip and prominent ears), skeletal
months. A moderately severe heart defect was anomalies, dermatoglyphic abnormalities including
diagnosed at 18 months. The boy attends a special- persistent fingertip pads, mild to moderate mental
needs school. Dental anomalies and enamel hypoplasia retardation, and postnatal growth deficiency. It is
of 11 and 21, the upper second incisors displayed a extremely rare; in Japan, where is most frequent, it
conical shaped crown; agenesia of 45. Several caries affects 1:32000 new births. Dental anomalies are
lesions observed. Bilateral cross-bite and ogival palate. commonly described in Kabuki Syndrome patients:
over 70% of the affected ones [Adam and Hudgins,
Patient 5 2005]; hypodontia is recorded in about 40% of Kabuki
A girl born in 1991 after a normal term pregnancy patients [Lerone et al., 1997]. These clinical features
may be helpful in the diagnostic process to identify
mildly affected carrier parents.
The findings confirm the principal characteristics of
the syndrome: 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.
Cardiac problems are found in almost 50% of the
affected subjects. Recently several papers report that
Kabuki’s patients could be more prone to many general
medical problems like obesity and diabetes mellitus
[Fujishiro et al., 2003; Shalev et al., 2004; White et al.,
2004]. Therefore, it is essential that patients and
FIG. 2 - The oral cavity of patient 3. Dental anomalies of 11 caregiver be aware of signs of these diseases. Kabuki
and 21, agenesia of 12, 22, 31,42, 44. Left lateral cross-bite Syndrome might be associated by a weakened immune
and ogival palate..

FIG. 3 - The oral cavity of patient 2. A severe hypodontia. FIG. 4 - The oral cavity of patient 4. Lateral cross bite.

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