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 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 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 C