Kabuki syndrome: a case report and summary of previous oral findings R. BALMER, E. MAHONEY,A. CAMERON SUMMARY. A case of Kabuki syndrome in a ten-year old male is presented with a review of published literature. This rare autosomal dominant condition presents with a number of characteristic dermatoglyphic abnormalities and facial features and other associated developmental anomalies and oral findings. The presence of hypodontia and other dental morphological abnormalities, such as root and crown anomalies, appear not to be sporadic findings and may be important diagnostic clinical findings in Kabuki syndrome. KEY WORDS: Kabuki Syndrome, Hypodontia, Oligodontia. Introduction grooving.There is eversion of the lateral part of the Kabuki syndrome is a rare inherited condition lower eyelid and long palpebral fissures [Kuroki et characterised by distinctive facial features. It al., 1981; Niikawa et al., 1981]. Blue sclera is seen exhibits post-natal growth deficiency, dermato- in about one third of cases [Burke and Jones 1995]. glyphic and bone abnormalities, and mild to Ears are prominent and dysmorphic and the nose moderate mental retardation. may be broad with a flattened nasal tip [Niikawa et Originally identified by Niikawa and coworkers al., 1988; Carcione A. et al., 1991; Burke and Jones in 1981 and simultaneously by Kuroki et al. [1981], 1995]. These characteristic features led to the the majority of earlier reported cases were original name of ‘Kabuki makeup syndrome’ due Japanese in whom the prevalence was estimated at to the resemblance of children to Japanese Kabuki 1 in 32,000 [Kuroki et al., 1981; Ohdo et al., 1985; actors [Niikawa et al., 1981]. Niikawa et al., 1988; Ho and Evans 1997]. Recently, Children are born at normal term and weight however, there have been an increasing number of [Niikawa et al., 1981]. Postnatal growth however is reports in the literature of non-Japanese cases delayed and children are usually of short stature [Kaiser et al., 1986; PeBenito and Ferretti, 1989; [Kuroki et al., 1981; Niikawa et al., 1981; Niikawa et Ilyina et al., 1995]. al., 1988; Philip et al., 1992]. A degree of hypotonia Transmission is thought to be autosomal has been reported in affected babies and infants dominant, although many cases probably arise [Schrander et al., 1994; Burke and Jones 1995]. spontaneously [Ohdo et al., 1985; Halal et al., 1989; Mental impairment is generally described as mild Tsukahara et al., 1997]. Further, there has been a to moderate although more severe cases have been suggestion that transmission may be X-linked, reported [Niikawa et al., 1981; Niikawa et al., 1988; given a preponderance of male cases [Burke and Burke and Jones 1995; Ilyina et al., 1995]. Jones 1995; Li et al., 1996]. The most characteristic dermatoglyphic Facial features are distinctive and manifest high abnormality is the preservation of foetal fingertip arched eyebrows with occasional bilateral pads [Niikawa et al., 1981; Niikawa et al., 1988; Schrander et al., 1994]. Other reported abnormalities include increased number of ulnar Department of Paediatric Dentistry and Orthodontics loops, single flexion creases at fourth and fifth Westmead Centre for Oral Health Westmead Hospital fingers and an excess of minor flexion creases on Westmead, NSW, 2145 the palms of the hands. Reported skeletal Australia problems include deformed vertebrae [Kaiser et EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY • 2/2001 83 R. BALMER, E. MAHONEY, A. CAMERON Oral Features Author and year Reported Oral Features Author and year Reported of Kabuki S. of publication case of Kabuki S. of publication case Hypodontia (specifically mentioned) Lynch et al., 1995 Niikawa et al., 1981 Present Li et al., 1996 PeBenito and Ferretti 1989 Van Hagen et al., 1996 Halal et al., 1989 Toutain et al., 1997 Carcione et al., 1991 Tsukahara et al., 1997 Franceschini et al., 1993 McGinniss et al., 1997 Ilyina et al., 1995 Li et al., 1996 Cleft uvula Lerone et al., 1997 Niikawa et al., 1981 Present Mhanni et al., 1999 Ohdo et al., 1985 Watanabe et al., 1994 Spaced teeth Burke and Jones 1995 Niikawa et al., 1981 Present Lan et al., 1995 Braun and Schmid 1984 Li et al., 1996 Ohdo et al., 1985 Niikawa et al., 1988 Cleft of soft palate PeBenito and Ferretti 1989 Ohdo et al., 1985 Present Halal et al., 1989 Tawa et al., 1994(submucous cleft palate) Gillis et al., 1990 Fryns et al., 1994 Carcione et al., 1991 Devriendt et al., 1995 Jardine et al., 1993 Burke and Jones 1995 Burke and Jones 1995 Li et al., 1996 Li et al., 1996 Tsukahara et al., 1997 Tsukahara et al., 1997 Toutain et al., 1997 Cleft lip and palate Iwama et al., 1987 Not present Micrognathia Handa et al., 1991 Schrander-Stumpel et al., 1993 Pagon et al., 1986 Not present Schrander-Stumpel et al., 1994 Niikawa et al., 1988 Ilyina et al., 1995 PeBenito and Ferretti 1989 Burke and Jones 1995 Halal et al., 1989 Ijichi et al., 1996 Say et al., 1993 Peterson-Falzone et al., 1997 Tutar et al., 1994 Ho and Eaves 1997 Drooping lower lip Ilyina et al., 1995 Franceschini et al., 1993 Not present Lynch et al., 1995 Burke and Jones 1995 Tsukahara et al., 1997 Chrzanowska et al., 1998 Conical shaped teeth Gillis et al., 1990 Present High arched palate Lerone et al., 1997 Niikawa et al., 1981 Present Mhanni et al., 1999(screw driver-shaped) Kaiser-Kupfer et al., 1986 Pagon et al., 1986 Hypoplastic teeth Niikawa et al., 1988 Van Hagen et al., 1996 Not present Gillis et al., 1990 Carcione et al., 1991 Defective, abnormal teeth (not specified) Franceschini et al., 1993 Tsukahara et al., 1997 Present Say et al., 1993 Tutar et al., 1994 Velopharyngeal incompetence Watanabe et al., 1994 Lan et al., 1995 Present Fryns and et al., 1994 Lan et al., 1995 Ectopic eruption of permanent teeth Burke and Jones 1995 Mhanni et al., 1999 Not present TABLE 1 - Summary of previously reported oral manifestations of Kabuki syndrome. 84 EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY • 2/2001 KABUKI SYNDROME al., 1986], scoliosis [Niikawa et al., 1981; Gillis et shortening of the toes. Facial features were al., 1990], hip joint dislocation [Pagon R et al., distinctive and the diagnosis of Kabuki syndrome 1986; Matsumura et al., 1992], patella dislocation was made. There was no family history of Kabuki [Ikegawa et al., 1993], and generalised ligamentous syndrome and so it is assumed that this was a laxity [Gillis et al., 1990; Ikegawa et al., 1993]. spontaneous mutation. Numerous other complications have been Extra-oral examination of this child revealed associated with Kabuki syndrome. Cardiovascular highly arched eyebrows each interrupted by an anomalies have been frequently reported and have oblique groove. His sclera was normal colour. He been estimated to occur in about a third of cases had long, broad palpebral fissures with some [Niikawa et al., 1988]. An increased susceptibility evidence of eversion of the lower lids. The ears to infection [Niikawa et al., 1981; PeBenito and Ferretti, 1989], hearing loss [Niikawa et al., 1988; Say et al., 1993; Peterson et al., 1997; Toutain et al., 1997; Ewart-Toland et al., 1998], precocious Teeth reported Author Teeth missing puberty and premature thelarche [Kuroki et al., as missing and date in this case 1987; Tutar et al., 1994] are other commonly reported complications of this syndrome. Other Maxillary incisors occasional complications include kidney Halal et al., 1989 Both absent anomalies [Niikawa et al., 1981; Ewart-Toland et Carcione et al., 1991 al., 1998], cataracts [Pagon et al., 1986], diabetes Franceschini et al., 1993 [Tawa et al., 1994], urinary tract anomalies [Iwama Ilyina et al., 1995 et al., 1987; Ewart-Toland et al., 1998], anorectal Li et al., 1996 anomalies [Matsumura et al., 1992] and Mhanni et al., 1999 immunodeficiency [Chrzanowska et al., 1998]. Numerous reports in the literature of Kabuki Maxillary canines syndrome have noted oral abnormalities Halal et al., 1989 Right canine associated with this syndrome. The oral features that have been described are summarised in Table Maxillary premolars 1. The most commonly reported manifestations Mhanni et al., 1999 Right second include a high arched palate (19 reports), cleft lip premolar and palate (15 reports), and conical, spaced or ‘defective’ teeth (25 reports). Hypodontia has Maxillary molars been reported in a number of cases affecting the Lerone et al., 1997 (Third molars) anterior permanent teeth in particular. A summary of the distribution of congenital tooth Mandibular incisors absence is shown in Table 2. Halal et al., 1989 Central incisors Carcione et al., 1991 Franceschini et al., 1993 Case report Li et al., 1996 A ten-year-old Caucasian boy was referred to Lerone et al., 1997 our department by his orthodontist in regard to Mhanni et al., 1999 “abnormal spacing” and the “poor appearance” of the anterior teeth. He was born at 36 weeks after Mandibular canines an uneventful pregnancy to a primigravida Halal et al., 1989 Both present mother. Although the child was of normal birth weight (3,455 g), he was slow in achieving Mandibular premolars developmental milestones and had generalised Mhanni et al., 1999 Left second hypotonia. A psychological assessment at 4 years premolar of age indicated normal intelligence, however, fine motor skills were reported as being poor. He was Mandibular molars referred to a clinical geneticist at 5 years of age None reported (Third molars) who noted hyper-extensibility of joints, particularly of the hands and thumb, and some TABLE 2 - Distribution of previously reported hypodontia. EUROPEAN JOURNAL OF PAEDIATRIC DENTISTRY • 2/2001 85 R. BALMER, E. MAHONEY, A. CAMERON were large and prominent, whilst the nose was history is unclear, it appears that this patient also had broad and had a depressed tip (Fig. 1).